ABCMdb

ABCD1 p.Arg401Gln

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Publications

PMID: 11336405 [PubMed] Neumann S et al: "Identification of new mutations in Israeli patients with X-linked adrenoleukodystrophy."

No. Sentence Comment

6 Five missense-type mutations were identified: R104H, Y174C, L229P, R401Q, and G512C. Login to comment
45 The R401Q mutation involves a change in charge. Login to comment
50 Three of the mutations-R104H, R401Q, and R464X-were previouslydescribedin patients with ALD and are substitutions of arginine (Fanen et al., 1994; Fuchs et al., 1994; Braun et al., 1995). Login to comment
53 MUTATIONS IN THE ALD GENE Family number Exon cDNA alteration Amino acid alteration Missense: 1 1 G697A R104H 2 1 A907G Y174C 3, 4, 5 1 T1072C L229P 6 3 G1588A R401Q 7 6 G1920T G512C Nonsense: 8 4 C1776T R464X Frameshift: 9 1 901insC Y171 frameshift 10 5 1800insC E471 frameshift FIG. 1. Login to comment

PMID: 11748843 [PubMed] Kemp S et al: "ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations."

No. Sentence Comment

164 X-ALD Mutations Identified in the ABCD1 Gene Allele Exon Mutation Protein Remark fs P42 1 125insC n.d. # fs P84 1 253insC n.d. # E90K 1 268G>A n.d. # S98L 1 293C>T Present S98L 1 293C>T Present R104H 1 311G>A n.d. fs A112 1 337delC Absent # R113C 1 337C>T Present # R113P 1 338G>C n.d. # Q133X 1 397C>T Absent W137X 1 411G>A Absent P143S 1 427C>T n.d. S149N 1 446G>A Present R152S 1 454C>A n.d. R152C 1 454C>T Present R152L 1 455G>T Reduced # S161P 1 481T>C n.d. # R163P 1 488G>C n.d. Y174C 1 521A>G Absent Y174C 1 521A>G n.d. Q177X 1 529C>T Absent Y181C 1 542A>G n.d. fs Y181 1 544ins8bp n.d. # Q195X 1 583C>T n.d. # T198K 1 593C>A n.d. # fs S207 1 621del664bp Absent # SV207-8insAAS 1 622-23ins9bp n.d. # K217E 1 649A>G Present # P218T 1 652C>A n.d. V224E 1 671T>G n.d. # L229P 1 686T>C n.d. L229P 1 686T>C n.d. fs S235 1 706delCGTG n.d. # W242X 1 726G>A Absent G266R 1 796G>A n.d. G266R 1 796G>A n.d. R274W, R280C 1 820C>T, 838C>T n.d. # R285P 1 854G>C n.d. S290X 1 869C>A Absent # E291del 1 871-73delGAG Absent Y296C 1 887A>G n.d. Y296C 1 887A>G n.d. fs E300 IVS1 IVS1+1g>t n.d. # fs E300 IVS1 IVS1-1g>a n.d. # S315X 2 944C>A n.d. # K336M 2 1007A>T n.d. # G343D 2 1028G>A n.d. # R401Q 3 1202G>A Present R401Q 3 1202G>A Present K407X 3 1219A>T n.d. # E427del 4 1279-81delGAA n.d. # Q430X 4 1288C>T n.d. # R464X 4 1390C>T n.d. fs E471 5 1415delAG Absent fs E471 5 1415delAG Absent fs E471 5 1415delAG Absent fs E471 5 1415delAG Absent C511X 6 1533C>A n.d. # R518Q 6 1553G>A Absent fs G528 6 1586-90del Absent # fs Y532 6 1599delG Absent # P543L 6 1628C>T Absent P543L 6 1628C>T Absent fs Q544 6 1628-34duplicated n.d. # fs R545 IVS 6 IVS6+1g>c n.d. # R554H 7 1661G>A Absent fs Q556 7 1670delTG n.d. # (continued) replaced by a pyrimidine (C or T) or vice versa, and transitions, comprising the substitution of one purine by the other, or of one pyrimidine by the other. Login to comment

PMID: 10480364 [PubMed] Wichers M et al: "X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene mutations: no correlation between type of mutation and age of onset."

No. Sentence Comment

45 Mutations affecting amino acid residues T105 and R401 have been observed previously in patients with "Addison-only" symptoms (T105I; Feigenbaum et al. 1996) and childhood cerebral ALD or AMN (R401Q; Fuchs et al. 1994; Watkins et al. 1995; Krasemann et al. 1996), respectively, but, in these cases, are associated with different nucleotide substitutions. Login to comment

PMID: 10551832 [PubMed] Liu LX et al: "Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters."

No. Sentence Comment

47 ALD point mutations (R389H, R401Q, P484R, and R591Q) were individually introduced into pGBT- and pLEX-hALDPc by site-directed mutagenesis using "overlap extension PCR" with Pfu polymerase (Stratagene) and appropriate primers (25). Login to comment
90 B and C, interactions of wild type and mutated (R389H, R401Q, P484R, and R591Q) ALDPc with mALDRPc and hPMP70c. Login to comment
95 A, HF7c yeast strains expressing wild type or mutated (R389H, R401Q, P484R, and R591Q) ALDPc fused to Gal4-BD were analyzed for histidine auxotrophy (left panel, medium with histidine; right panel, medium without histidine). Login to comment
46 ALD point mutations (R389H, R401Q, P484R, and R591Q) were individually introduced into pGBT- and pLEX-hALDPc by site-directed mutagenesis using "overlap extension PCR" with Pfu polymerase (Stratagene) and appropriate primers (25). Login to comment
89 B and C, interactions of wild type and mutated (R389H, R401Q, P484R, and R591Q) ALDPc with mALDRPc and hPMP70c. Login to comment
94 A, HF7c yeast strains expressing wild type or mutated (R389H, R401Q, P484R, and R591Q) ALDPc fused to Gal4-BD were analyzed for histidine auxotrophy (left panel, medium with histidine; right panel, medium without histidine). Login to comment
45 ALD point mutations (R389H, R401Q, P484R, and R591Q) were individually introduced into pGBT- and pLEX-hALDPc by site-directed mutagenesis using "overlap extension PCR" with Pfu polymerase (Stratagene) and appropriate primers (25). Login to comment
88 B and C, interactions of wild type and mutated (R389H, R401Q, P484R, and R591Q) ALDPc with mALDRPc and hPMP70c. Login to comment
93 A, HF7c yeast strains expressing wild type or mutated (R389H, R401Q, P484R, and R591Q) ALDPc fused to Gal4-BD were analyzed for histidine auxotrophy (left panel, medium with histidine; right panel, medium without histidine). Login to comment

PMID: 21889498 [PubMed] Shukla P et al: "Molecular analysis of ABCD1 gene in Indian patients with X-linked adrenoleukodystrophy."

No. Sentence Comment

55 Prenatal diagnosis Prenatal diagnosis was done in one family having an affected child with c.1202 GNA (p.Arg401Gln) mutation in exon 3 of ABCD1 gene by CV sample taken at 12 weeks of gestation. CSGE was done for exon 3 of ABCD1 gene followed by sequencing to confirm the results. Login to comment
68 Six reported mutations, c.1202 GNA (p.Arg401Gln), c.1679 CNT (p.Pro560Leu), c.1816 TNC (p.Ser606Pro), 1547 TNC (p. Leu516Pro), c.1780+2 TNG (p.Gly593fs), c.1979 GNA (p.Arg660Gln) were found in eight patients (Fig. 1a, b, c and d). Login to comment
75 Prenatal diagnosis of X-ALD Prenatal diagnosis was done in one family having an affected child with c.1202 GNA (p.Arg401Gln) mutation in exon 3 of ABCD1 gene by CV sample taken at 12 weeks of gestation. CSGE analysis of exon 3 of CV sample showed no mobility shift, suggesting that the CV sample was negative for c.1202 GNA (p.Arg401Gln) change (Fig. 2a). Login to comment
90 Missense mutation, c.1202 GNA (p.Arg401Gln) is located in "hinge" region between the transmembrane and ATP binding domains, which is a conserved region and thus supposed to be pathogenic. Login to comment
123 Patients Age of onset (Years) Age at diagnosis (Years) Clinical features Phenotype Mutation/polymorphisma PolyPhen results PSIC score difference A1 8 8 Neuroregression, seizures, deterioration of hearing, behavior problem, cognitive decline, frequent falls CCER c.1202 GNA (p.Arg401Gln) in exon 3 3.071 Probably damaging A2b 7.7 8 Neuroregression, deterioration of hearing, deterioration of school performance, behavior problem, cognitive decline, speech problem, abnormal gait CCER No A3b 26 27 Hyperactivity, behavior problem, abnormal gait AMN c.1679 CNT (p.Pro560Leu) in exon 7 3.379 Probably damaging A4 3 6 Neuroregression, deterioration of vision, deterioration of school performance, can't ambulate. Login to comment
131 a. CSGE gel showing shift in exon 3 in patint A1 and electropherogram showing c.1202 GNA (p.Arg401Gln) mutation. Login to comment
159 In our study, c.1202 GNA (p.Arg401Gln) mutation was found in the affected child having childhood cerebral phenotype while others reported them in patients with AMN and CCER phenotype [7,14]. Login to comment
166 This phenotype was found in patients with splice site mutation, insertion and nonsense mutation as well as patients having missense mutations, c.1202 GNA (p.Arg401Gln), c.1816 TNC (p.Ser606Pro) and c.1979 GNA (p.Arg660Gln) (Table 4). Login to comment
170 A1 is sample of affected child showing shift in exon 3 for the c.1202 GNA (p.Arg401Gln) of ABCD1 gene. Login to comment
173 Electropherogram showing CV DNA normal for c.1202 GNA (p.Arg401Gln) mutation in exon 3 of ABCD1 gene. Login to comment
175 Electropherogram showing heterozygous mutation, c.1202 GNA (p.Arg401Gln) in exon 3 of ABCD1 gene in mother of patient A1. Login to comment

PMID: 21068741 [PubMed] Shimozawa N et al: "X-linked adrenoleukodystrophy: diagnostic and follow-up system in Japan."

No. Sentence Comment

21 Although most probands with ALD identified by us had a unique gene mutation, 6 missense mutations (p.Gly266Arg, p.Arg401Gln, p.Gly512Ser, p.Ser514Ile, p.Arg617His and p.Arg660Trp) and 1 frame-shift mutation (p.Gln472fs) were detected in two or three families (* in Figure 2). Login to comment

PMID: 7668254 [PubMed] Watkins PA et al: "Altered expression of ALDP in X-linked adrenoleukodystrophy."

No. Sentence Comment

176 In 11 patients, missense mutations that occurred throughout the protein were found: within the transmembrane domains (patients 1, 3, and 4), within the ATP-binding domain (patients 8-12), and on either side of the ATP-binding Table 3 Mutational Analysis of the ALD Gene in IS Unrelated Patients ALDP Patient Phenotype Mutation Consequence Immunoreactivity 1 .................. CALD 825 A-GG K276E + 2.................. AMN 870-2AGAGE291,& 3 .................. CALD 872 G-C E291D 4 .................. AMN 1023 T-IC S342P+ 5 .................. AMN 1166 G-C R389H + 6 .................. CALD 1201 G-AA R401Q + 7 ........ CALD 1415-6 AAG FS@472 8 ........ AMN 1771 G-AA R591Q + 9 ........ Addison 1817 C-T S606L + 10 ................ AMN 1850 G-AA R617H 11 ................ CALD 1876 G-AA A626T 12 ................ Fetus 1884 G-C D629H + 13 ................ CALD 1932 C-UT Q645X 14 ................ AMN 1978 C-OT R660W 15 ........ AMN AExon7-10 Null Mutations in the ALD gene were determined, as described in Methods, in 15 of the ALD patients reported in table 2. Login to comment
178 In 11 patients, missense mutations that occurred throughout the protein were found: within the transmembrane domains (patients 1, 3, and 4), within the ATP-binding domain (patients 8-12), and on either side of the ATP-binding Table 3 Mutational Analysis of the ALD Gene in IS Unrelated Patients ALDP Patient Phenotype Mutation Consequence Immunoreactivity 1 .................. CALD 825 A-GG K276E + 2 .................. AMN 870-2 AGAG E291,& 3 .................. CALD 872 G-C E291D 4 .................. AMN 1023 T-IC S342P + 5 .................. AMN 1166 G-C R389H + 6 .................. CALD 1201 G-AA R401Q + 7 ........ CALD 1415-6 AAG FS@472 8 ........ AMN 1771 G-AA R591Q + 9 ........ Addison 1817 C-T S606L + 10 ................ AMN 1850 G-AA R617H 11 ................ CALD 1876 G-AA A626T 12 ................ Fetus 1884 G-C D629H + 13 ................ CALD 1932 C-UT Q645X 14 ................ AMN 1978 C-OT R660W 15 ........ AMN AExon7-10 Null Mutations in the ALD gene were determined, as described in Methods, in 15 of the ALD patients reported in table 2. Login to comment

PMID: 7849723 [PubMed] Fuchs S et al: "Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD)."

No. Sentence Comment

39 (C) Detection of G1588A (R401Q) in exon 3. Login to comment
42 Mutations identified in the ALD gene of 9 unrelated ALD patients/families Amino acid |Codon |Exon |ALDP-PMP70 | Restriction site Asnl48Ser Tyrl74Asp Gly266Arg Arg401Gln Arg418Trp Gln472-frameshift Glu477ter Ser515Phe AAC->AGC TAC->GAC GGG-»AGG CGG->CAG CGG->TGG delAG GAG-+TAG TCC-»TTC I I I III IV V V VI conserved conserved conserved conserved conserved conserved none +TaqI none none - Smal none none -Sad that are conserved between the ALD protein and PMP70. Login to comment
43 These missense mutations are (positions of nucleotides and amino acids according to the ALD cDNA sequence in ref. 4) A829G (N148S), T906G (Y174D), Gl 182A (G266R), G1588A (R401Q), C1638T (R418W), and C1930T (S515F). Login to comment
45 For R401Q and R418W the families •e« M 1 2 3 4 5 B R418W C S515F r 1 2 3 4 5 6 M bp Figure 3. Identification of ALD mutations by restriction enzyme digestion. Login to comment

PMID: 21966424 [PubMed] Kumar N et al: "Genomic profiling identifies novel mutations and SNPs in ABCD1 gene: a molecular, biochemical and clinical analysis of X-ALD cases in India."

No. Sentence Comment

103 Of the 10 non-recurrent mutations in our study group i.e a frameshift mutation c.110_117del8 (Val36fs) in exon 1 was identified in an asymptomatic heterozygous female and 5 missense mutations, c.904G.A (Glu302Lys) in exon 2, c.1202G.A (Arg401Gln) in exon 3, c.1771C.T (Arg591Trp) in exon 7, c.1816T.C (Ser606Pro) and c.1825G.A (Glu609Lys) in exon 8 were present in 5 different patients. Login to comment
156 Patients Phenotype1 Age(Year) Sex Exon/IVS Mutation Type Mutations Protein Localization ALDP PSIC Score5 P01* ccALD 4 M 9 Inframe del/ins c.1903_04delinsCCA/Val635delinsAlaMet NBF + + - P02* ccALD 5 M 9 Missense c.1979G.A/Arg660Gln - - 2.409 P03 ccALD 3 M IVS84 Frameshift g.1866-10G.A/Arg622fs Walker B3 - - P04 ccALD 4.5 M 1 Missense c.796G.A/Gly266Arg TMD + ++ 2.539 P05 ccALD 6 M 9 Frameshift c.1939_40insGG/Ala646fs NBF n.d - P06 ccALD 7 M 2 Missense c.904G.A/Glu302Lys TMD + + 2.194 P07 ccALD 8 M 3 Missense c.1202G.A/Arg401Gln - + ++ 2.396 P08* ccALD 8 M 10 Inframe del/ins c.1993_95delinsGAG/Lys665delinsGlu - + + - P09 AdolCALD 11 M 1 Missense c.796G.A/Gly266Arg TMD + ++ 2.539 P10 AdolCALD 11 M 8 Missense c.1816T.C/Ser606Pro C sequence - 2.499 P11 AdolCALD 15 M IVS8 Frameshift g.1866-10G.A/Arg622fs Walker B + - P12 ACALD 42 M 8 Missense c.1825G.A/Glu609Lys C sequence3 - 2.075 P13* ACALD 46 M 7 Missense c.1673T.C/Ile558Thr NBF3 + ++ 1.211 P14 AMN 26 M 9 Frameshift c.1939_40insGG/Ala646fs - - - P15 AMN 35 M 1 Missense c.796G.A/Gly266Arg TMD2 + ++ 2.539 P16 Asymptomatic 18 F 7 Missense c.1771C.T/Arg591Trp NBF + ++ 2.818 P17 Asymptomatic 26 F 1 Frameshift c.110_17del8/Val36fs - + + - *Novel Mutations, 1 ccALD-Childhood Adrenoleukodystrophy, AMN-Adrenomyeloneuropathy, ACALD-Adult Cerebral Adrenoleukodystrophy, AdolCALD- Adolescent cerebral Adrenoleukodystrophy. Login to comment
168 Lane 1 and 10 (Control by symbol ''C``), Lane 2 (P01, ccALD, V635delins A & M), Lane 3 (P02, ccALD, R660Q), Lane 4 (P03, ccALD, R622fs), Lane 5 (P04, ccALD, G266R), Lane 6 (P06, ccALD, E302K), Lane 7 (P07, ccALD, R401Q), Lane 8 (P08, ccALD, K665delinsE), Lane 9 (P09, AdolCALD, G266R), Lane 11 (P10, AdolCALD, S606P), Lane 12 (P11, AdolCALD, R622fs), Lane 13 (P12, ACALD, E609K), Lane 14 (P13, ACALD, I558T), Lane 15 (P14, AMN, A646fs), Lane 16 (P15, AMN, G266R), Lane 17 (P16, asymptomatic female, R591W) and Lane 18 (P17, asymptomatic female,). Login to comment
198 Supporting Information Supporting Information S1 Frequently occurring mutations in (a) intervening sequence 8 (g.1866-10G.A/Arg622fs, shown as C.T in antisense strand) in P03 and P11, (b) exon 1 (c.796G.A/ Gly266Arg, shown as C.T in antisense strand) in P04, P09 and P15, (c) exon 9 (c.1939_40insGG/Ala646fs, shown as CC in antisense strand) in P05 and P14, (d) exon 2 (c.904G.A/ Glu302Lys) in P06, (e) exon 3 (c.1202G.A/Arg401Gln) in P07, (f) exon 8 (c.1816T.C/Ser606Pro) in P10, (g) exon 8 (c.1825G.A/ Glu609Lys) in P12, (h) exon 7 (c.1771C.T/Arg591Trp) in P16 and (i) exon 1 (c.110_17del8/Val36fs) in P17. Login to comment
102 Of the 10 non-recurrent mutations in our study group i.e a frameshift mutation c.110_117del8 (Val36fs) in exon 1 was identified in an asymptomatic heterozygous female and 5 missense mutations, c.904G.A (Glu302Lys) in exon 2, c.1202G.A (Arg401Gln) in exon 3, c.1771C.T (Arg591Trp) in exon 7, c.1816T.C (Ser606Pro) and c.1825G.A (Glu609Lys) in exon 8 were present in 5 different patients. Login to comment
155 Patients Phenotype1 Age(Year) Sex Exon/IVS Mutation Type Mutations Protein Localization ALDP PSIC Score5 P01* ccALD 4 M 9 Inframe del/ins c.1903_04delinsCCA/Val635delinsAlaMet NBF + + - P02* ccALD 5 M 9 Missense c.1979G.A/Arg660Gln - - 2.409 P03 ccALD 3 M IVS84 Frameshift g.1866-10G.A/Arg622fs Walker B3 - - P04 ccALD 4.5 M 1 Missense c.796G.A/Gly266Arg TMD + ++ 2.539 P05 ccALD 6 M 9 Frameshift c.1939_40insGG/Ala646fs NBF n.d - P06 ccALD 7 M 2 Missense c.904G.A/Glu302Lys TMD + + 2.194 P07 ccALD 8 M 3 Missense c.1202G.A/Arg401Gln - + ++ 2.396 P08* ccALD 8 M 10 Inframe del/ins c.1993_95delinsGAG/Lys665delinsGlu - + + - P09 AdolCALD 11 M 1 Missense c.796G.A/Gly266Arg TMD + ++ 2.539 P10 AdolCALD 11 M 8 Missense c.1816T.C/Ser606Pro C sequence - 2.499 P11 AdolCALD 15 M IVS8 Frameshift g.1866-10G.A/Arg622fs Walker B + - P12 ACALD 42 M 8 Missense c.1825G.A/Glu609Lys C sequence3 - 2.075 P13* ACALD 46 M 7 Missense c.1673T.C/Ile558Thr NBF3 + ++ 1.211 P14 AMN 26 M 9 Frameshift c.1939_40insGG/Ala646fs - - - P15 AMN 35 M 1 Missense c.796G.A/Gly266Arg TMD2 + ++ 2.539 P16 Asymptomatic 18 F 7 Missense c.1771C.T/Arg591Trp NBF + ++ 2.818 P17 Asymptomatic 26 F 1 Frameshift c.110_17del8/Val36fs - + + - *Novel Mutations, 1 ccALD-Childhood Adrenoleukodystrophy, AMN-Adrenomyeloneuropathy, ACALD-Adult Cerebral Adrenoleukodystrophy, AdolCALD- Adolescent cerebral Adrenoleukodystrophy. Login to comment
167 Lane 1 and 10 (Control by symbol ''C``), Lane 2 (P01, ccALD, V635delins A & M), Lane 3 (P02, ccALD, R660Q), Lane 4 (P03, ccALD, R622fs), Lane 5 (P04, ccALD, G266R), Lane 6 (P06, ccALD, E302K), Lane 7 (P07, ccALD, R401Q), Lane 8 (P08, ccALD, K665delinsE), Lane 9 (P09, AdolCALD, G266R), Lane 11 (P10, AdolCALD, S606P), Lane 12 (P11, AdolCALD, R622fs), Lane 13 (P12, ACALD, E609K), Lane 14 (P13, ACALD, I558T), Lane 15 (P14, AMN, A646fs), Lane 16 (P15, AMN, G266R), Lane 17 (P16, asymptomatic female, R591W) and Lane 18 (P17, asymptomatic female,). Login to comment
197 Supporting Information Supporting Information S1 Frequently occurring mutations in (a) intervening sequence 8 (g.1866-10G.A/Arg622fs, shown as C.T in antisense strand) in P03 and P11, (b) exon 1 (c.796G.A/ Gly266Arg, shown as C.T in antisense strand) in P04, P09 and P15, (c) exon 9 (c.1939_40insGG/Ala646fs, shown as CC in antisense strand) in P05 and P14, (d) exon 2 (c.904G.A/ Glu302Lys) in P06, (e) exon 3 (c.1202G.A/Arg401Gln) in P07, (f) exon 8 (c.1816T.C/Ser606Pro) in P10, (g) exon 8 (c.1825G.A/ Glu609Lys) in P12, (h) exon 7 (c.1771C.T/Arg591Trp) in P16 and (i) exon 1 (c.110_17del8/Val36fs) in P17. Login to comment

PMID: 21300044 [PubMed] Lan F et al: "Molecular diagnosis of X-linked adrenoleukodystrophy: experience from a clinical genetic laboratory in mainland China with report of 13 novel mutations."

No. Sentence Comment

52 Of 19 missense mutations, 18 were distributed in the transmembrane domain (amino acid residues 51-350) or ATP binding domain (amino acid residues 501-651), only one mutation (p.R401Q) was located in the region between the above two domains, which is in accordance with previous notion that most missense mutations concentrated in transmembrane and ATP binding domains [10]. Login to comment
59 The mutation p.fs E471, or c.1415_1416delAG, was pinpointed in 3 families (1/10), p.R401Q was found in 2 families (1/15), and the rest were private. Login to comment
84 Only two mutations (p.fs E471 and p.R401Q) were shared by more than one families, with p.fs E471 being shared by 3 families (3/30, or 10%) and p.R401Q by 2 families (2/30, or 6.7%). Login to comment
99 Pedigree Number of patient Number of carriere Phenotype of patient Base change Amino acid change Position of mutation Feature of mutation Prenatal diagnosis 1 1 2 AdolCALD 1225GNT R280L Exon 1 Missense 2 1 1 CCALD 1909CNT P508L Exon 6 Missense 3 4 3 CCALD 1987CNG P534R Exon 6 Missense Y 4 1 1 CCALD 1182GNA G266R Exon 1 Missense 5 1a +1b 1 CCALD 2235CNG R617G Exon 8 Missense Y 6 1+1a +1c 1 CCALD 1414GNT G343V Exon 2 Missense 7 1 1 CCALD 1415_02 del AG fs E471 Exon 5 Frameshift 8 1+1b 1 CCALD 2235CNT R617C Exon 8 Missense Yh 9 1 1 CCALD 2065CNT P560L Exon 7 Y 10 1+1a 2+1b CCALD [709 NA; 1161CNT] [S108X; R259W] Exon 1 Nonsense; Missense Y 11 1 1 CCALD 1126ins GCCATCG fs I246 Exon 1 Frameshift 12 1 1 CCALD 2113TNC L576P Exon 7 Missense 13 1a +2c 3 CCALD 807GNA A141T Exon 1 Missense 14 1 1 CCALD 1415_02 del AG fs E471 Exon 5 Frameshift Y 15 1 1+1b CCALD 915CNA Q177X Exon 1 Nonsense Yh 16 1+1a 1 CCALD 1588GNA R401Q Exon 3 Missense 17 1 1 CCALD 1212 ANG K276E Exon 1 Missense Y 18 1 1 CCALD 907 ANG Y174C Exon 1 Missense 19 1 2 CCALD 2190 ANT K602X Exon 8 Nonsense 20 1 1 CCALD 1326GNC A314P Exon 2 Missense 21 1 1 CCALD 828 ANG N148D Exon 1 Missense Y 22 1 1 CCALD 1588GNA R401Q Exon 3 Missense Y 23 1 0f CCALD 2278GNA C631Y Exon 9 Missense 24 1a 1 CCALD 1008insG fs S207 Exon 1 Frameshift Y 25 1 0f CCALD 1920GNA G512S Exon 6 Missense 26 1+1c 3 CCALD 1415_02 del AG fs E471 Exon 5 Frameshift Y 27 1+1b 1 CCALD [1035ANG; 1853GNA] [K217E; V489V] Exon 1 Missense; same sense Y 28 1+3d 4 AMNg 1234ANG H283R Exon 1 Missense 29 1+2a 3 CCALD 1233CNG H283D Exon 1 Missense 30 2 3 AMN; CCALD 656_57 delGA fs R89 Exon 1 Frameshift a patient or proband died at the time of referral; b fetus by prenatal diagnosis; c presymptomatic at the time of referral; d female heterozygote patient; e determined by molecular ananlysis or deduced by the fact that the carrier was the daughter of an X-ALD, or the mother of at least one X-ALD patients; f de novo mutation; g including three heterozygote female patients; h twice for two pregnancies. Login to comment

PMID: 20800589 [PubMed] Lan F et al: "A rapid and sensitive protocol for prenatal molecular diagnosis of X-linked adrenoleukodystrophy."

No. Sentence Comment

74 Family Origin (province) Genotype of proband Age (years) of carrier at amniocentesis Weeks of pregnancy at amniocentesis 1 Guangdong p.Arg617Gly 39 28 2 Shandong p.Pro534Arg 25 21 3 Fujian p.Arg617Cys 33(34)a 16(17)a 4 Hebei 1415_1416delAG (p.Glu471fs) 29 26 5 Fujian [p.Ser108X; p.Arg259Trp] 33 19 6 Shandong p.Pro560Leu 35 18 7 Anhui p.Gln177X 33 20 8 Shandong p.Lys276Glu 33 16 9 Hubei p.Asn148Asp 35 18 10 Jilin c.622_623insG (p.Ser207fs) 35 16 11 Guangxi p.Arg401Gln 32 16 a Figures in parentheses represent those data of second-time prenatal diagnosis for another fetus from family 3. Login to comment
117 Fetus 12: The PCR products of 302 bp, spanning the site of p. Arg401Gln mutation, from the AFC's DNA of fetus 12 as well as the genomic DNA of its parents and elder brother (proband of the family) were digested with the restriction enzyme Mbi I. Login to comment
118 In normal cases, this enzyme has one cutting site on this product, producing two fragments (226 bp and 76 bp) upon its action. When there exists the p. Arg401Gln mutation, the cutting site disappears. Login to comment

PMID: 22280810 [PubMed] Salsano E et al: "Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms."

No. Sentence Comment

53 All samples were tested in Table 1 Clinical Findings, Genotype, X-Chromosome Inactivation (XCI), ABCD1 Allele-Specific Expression (ASE) and Biochemical Findings (VLCFA plasma levels) of X-ALD carriers Nr of family, consultants Age (yrs) Presence of symptoms (age at onset, yrs) Mutations XCI pattern ABCD1 ASE (mut:wt) C26 (nv) C26/C22 (nv) C24/C22 (nv) F1 II-3 67 Yes (45) 410G > A W137X 97:03 84:16 1,09 (<0,75) 48 (<17) 1644 (<1100) F1 III-2 34 No 410G > A W137X 91:09 nd 0,58 (<0,75) 47 (<17) 1482 (<1100) F2 I-2 61 Yes (59) 427C > G P143A 71:29 93:07 0,85 (<0,75) 18 (<17) 1222 (<1100) F2 II-1 38 No 427C > G P143A 85:15 83:17 nd nd nd F2 II-2 35 No 427C > G P143A 76:24 77:23 nd nd nd F3 II-2 73 Yes (45) 428C > A P143H 60:40 38:62 1,45 (<1,50) 28 (<40) 700 (<820) F3 III.1 46 No 428C > A P143H 84:16 84:16 1,53 (<1,50) 40 (<40) 860 (<820) F3 III-2 50 No 428C > A P143H 83:17 75:25 1,75 (<1,50) 37 (<40) 733 (<820) F4 II-3 75 Yes (50) 652C > T; 664G > T P218S; V222L 81:19 82:18 1,57 (<0,75) 19 (<17) 1680 (<1100) F4 III-1 44 No 652C > T; 664G > T P218S; V222L 83:17 81:19 2,38 (<1,50) 53 (<40) 1424 (<820) F4 III-3 45 Yes (29) 652C > T; 664G > T P218S; V222L 89:11 82:18 1,00 (<0,75) 36 (<17) 1611 (<1100) F5 II-1 55 Yes (54) 1202G > A R401Q 98:02 82:18 1,96 (<1,50) 38 (<40) 1031 (<820) F6 II-1 76 Yes (58) 1727T > C L576P 73:27 76:24 2,10 (<0,75) 21 (<17) 1039 (<1100) F7 I-2 72 No 1772G > A R591Q n/a n/a 1,23 (<1,5) 16 (<40) 798 (<820) F7 II-1 44 Yes (34) 1772G > A R591Q 96:04 97:03 2,7 (<1,50) 56 (<40) 957 (<820) F8 II-1 62 Yes (40) 1992G > A W664X 83:17 82:18 3,08 (<1,50) 56 (<40) 1132 (<820) F9 II-1 63 No 293C > T S98L 83:17 93:07 1,82 (<1,50) 37 (<40) 888 (<820) F9 II-3 57 No 293C > T S98L 79:21 75:25 1,99 (<1,50) 42 (<40) 913 (<820) F9 III-2 20 No 293C > T S98L 75:25 61:39 2,65 (<1,50) 46 (<40) 1149 (<820) F10 I-2 63 No 443A > G N148S 86:14 42:58 2,16 (<1,50) 42 (<40) 788 (<820) F10 II-2 40 No 443A > G N148S 96:04 84:16 2,17 (<1,50) 43 (<40) 757 (<820) F11 III-1 67 No 1165C > T R389C 52:48 72:28 0,7 (<1,50) 13 (<40) 572 (<820) F11 III-3 64 No 1165C > T R389C 78:22 34:66 1,1 (<1,50) 16 (<40) 823 (<820) F11 III-5 49 No 1165C > T R389C 98:02 20:80 1,05 (<1,50) 16 (<40) 848 (<820) F11 III-6 46 No 1165C > T R389C 71:29 74:26 1,30 (<1,50) 18 (<40) 1000 (<820) F11 V-1 26 No 1165C > T R389C 57:43 58:42 0,68 (<1,50) 14 (<40) 663 (<820) F12 I-2 53 No 1211C > A S404X 95:05 09:91 nd nd nd F13 I-2 60 No del. ex8-10 n/a 76:24 nd nd nd nd duplicate and one male DNA sample was included in each experiment as a control for enzymatic digestion. Login to comment

PMID: 23419472 [PubMed] Horn MA et al: "Adrenoleukodystrophy in Norway: high rate of de novo mutations and age-dependent penetrance."

No. Sentence Comment

145 ABCD1 gene mutations found in 21 Norwegian kindred with X-ALD* Gene Effect Amino Acid Effect Exon Reported n Kindred c.99C>A p.Y33X 1 No 1 c.139C>T p.Q47X 1 Yes 1 c.293C>A p.S98X 1 No 1 c.589_590delCT p.L197DfsX103 1 No 1 c.761C>T p.T254M 1 Yes 1 c.796G>A p.G266A 1 Yes 1 c.1202G>A p.R401Q 3 Yes 3 c.1390C>T p.R464X 4 Yes 2 c.1415_1416delAG p.Q472RfsX83 5 Yes 1 c.1497-1505del p.E499-H505delinsD 6 No 1 c.1553G>A p.R518Q 6 Yes 3 c.1581C>A p.Y527X 6 No 1 c.1585_1587delGGT p.G529del 6 Yes 1 c.1731delA p.A578PfsX58 7 No 1 c.1772G>C p.R591P 7 Yes 1 c.1822G>A p.G608S 8 Yes 1 Abbreviation: n &#bc; kindred sharing this mutation * One kindred was unavailable for genotyping. concerning the number of at-risk subjects and their health status was obtained. Login to comment

PMID: 26388597 [PubMed] Incecik F et al: "X-linked adrenoleukodystrophy in a 6-year-old boy initially presenting with psychiatric symptoms."

No. Sentence Comment

8 Genetic testing was performed and a p.R401Q (c.1202G>A) mutation detected in the ABCD1 gene. Login to comment
41 To confirm the diagnosis of X-linked ALD, we analyzed the ABCD1 gene sequencing in the patient, revealing a p.R401Q (c.1202G>A) mutation. Login to comment

PMID: 26454440 [PubMed] Chu SS et al: "Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophy."

No. Sentence Comment

111 However, some X-ALD males remain asymptomatic and one-third of heterozygous women remain free of clinical symptoms during their Patient number Exon Nucleotide change Amino acid change Protein localization References P1 2 c.1017G>T p.Trp339Cys TMD Novel P2 8 c.1850G>A p.Arg617His NBD Fanen et al, 1994[12] P4 1 c.892G>C p.Gly298Arg TMD Novel P5, P6 5 c.1415_16delAG p.Gln472Argfs*83 TMD to NBD Barcelo et al, 1994[13] P7 1 c.532C>T p.Gln178* TMD Novel P8 1 c.473T>C p.Leu158Pro TMD The peroxisomal diseases laboratory (unpublished) P10 6 c.1552C>T p.Arg518Trp NBD Fanen et al, 1994[12] P11 3 c.1202G>A p.Arg401Gln TMD to NBD Fuchs et al, 1994[14] P12 1 c.887A>G p.Tyr296Cys TMD Takano et al, 1999[15] P13 1 c.893G>A p.Gly298Asp TMD Lachtermacher et al, 2000[16] P14 1 c.310C>T p.Arg104Cys TMD Kok et al, 1995[17] P15 IVS 8 c.1866-10G>A p.Pro623fs* NBD Kemp et al, 1995[18] P16 5 c.1428C>A p.Cys476* NBD Novel P17 5 c.1421T>C p.Ile474Thr NBD Shimozawa et al, 2011[19] P18 6 c.1538A>G p.Lys513Arg NBD Piti&#e9;-Salp&#e9;tri&#e8;re Hospital (unpublished) P19 1 c.310C>T p.Arg104Cys TMD Kok et al, 1995[17] P20 6 c.1544C>A p.Ser515Tyr NBD Novel P21 2 c.901-1G>A p.Val301fs* TMD Kemp et al, 2001[20] P22 2 c.974T>C p.Leu325Pro TMD The peroxisomal diseases laboratory (unpublished) P23 3 c.1182delG p.Ala395Leufs*15 TMD to NBD Novel P24 1 c.424delC p.Leu142Serfs*56 TMD Novel P25 7 c.1759_1761dup p.Ile588His NBD Novel Table 2. Login to comment