PMID: 21700483

Wang Y, Busin R, Reeves C, Bezman L, Raymond G, Toomer CJ, Watkins PA, Snowden A, Moser A, Naidu S, Bibat G, Hewson S, Tam K, Clarke JT, Charnas L, Stetten G, Karczeski B, Cutting G, Steinberg S
X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.
Mol Genet Metab. 2011 Sep-Oct;104(1-2):160-6. Epub 2011 Jun 22., [PubMed]
Sentences
No. Mutations Sentence Comment
84 ABCD1 p.Ser633Arg
X
ABCD1 p.Ser633Arg 21700483:84:241
status: NEW
view ABCD1 p.Ser633Arg details
Family 1 The male proband in this family (Family 1-1) presented with features consistent with X-ALD. Plasma VLCFA levels were consistent with the biochemical defect for X-ALD and molecular analysis identified the ABCD1 mutation c.1899CNA (p.Ser633Arg) (Fig. 1A). Login to comment
85 ABCD1 p.Ser633Ile
X
ABCD1 p.Ser633Ile 21700483:85:110
status: NEW
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The c.1899CNA transversion has been reported in one other family [19], and another amino acid substitution, p.Ser633Ile, also has been reported in another family [20]. Login to comment
90 ABCD1 p.Pro560Leu
X
ABCD1 p.Pro560Leu 21700483:90:787
status: NEW
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ABCD1 p.Pro560Leu
X
ABCD1 p.Pro560Leu 21700483:90:828
status: NEW
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ABCD1 p.Ser606Pro
X
ABCD1 p.Ser606Pro 21700483:90:937
status: NEW
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ABCD1 p.Ala626Thr
X
ABCD1 p.Ala626Thr 21700483:90:1017
status: NEW
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ABCD1 p.Gly266Arg
X
ABCD1 p.Gly266Arg 21700483:90:397
status: NEW
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ABCD1 p.Arg617His
X
ABCD1 p.Arg617His 21700483:90:976
status: NEW
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ABCD1 p.Arg401Trp
X
ABCD1 p.Arg401Trp 21700483:90:511
status: NEW
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ABCD1 p.Ser633Arg
X
ABCD1 p.Ser633Arg 21700483:90:1095
status: NEW
view ABCD1 p.Ser633Arg details
ABCD1 p.Thr632Pro
X
ABCD1 p.Thr632Pro 21700483:90:1058
status: NEW
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ABCD1 p.Leu523Phe
X
ABCD1 p.Leu523Phe 21700483:90:675
status: NEW
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ABCD1 p.Glu640Lys
X
ABCD1 p.Glu640Lys 21700483:90:1143
status: NEW
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ABCD1 p.Gly677Asp
X
ABCD1 p.Gly677Asp 21700483:90:1180
status: NEW
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ABCD1 p.Gly266Gln
X
ABCD1 p.Gly266Gln 21700483:90:437
status: NEW
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ABCD1 p.Thr198Met
X
ABCD1 p.Thr198Met 21700483:90:276
status: NEW
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ABCD1 p.Phe540Cys
X
ABCD1 p.Phe540Cys 21700483:90:749
status: NEW
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Previously reported (Yes/No) Number of pedigrees reporteda CpG (Yes/No) 25 c.124delC ND No 1 N/A 5 c.279_280ins12bp (p.Leu93_Leu94insGluThrGlyLeu) ND No 1 No 6 c.410G>A (p.Trp137X) ND No 1 No 7 c.412_414delCTC (p.Leu139del) ND Yes 2 No 26 c.476del24 ND No 1 N/A 4 c.593C>G (p.Thr198Met) N/A No 1 Yes 8 c.695_696insG (p.Ala233fsX67) ND No 1 Yes 2 c.725G>A (p.Trp242X) Gonosomal No 1 No c.796G>A (p.Gly266Arg) ND Yes 23 Yes 27 c.797G>A (p.Gly266Gln) ND No 1 No 12 c.944C>A (p.Ser315X) ND No 1 Yes 13 c.1201C>T (p.Arg401Trp) ND Yes 12 Yes 14 c.1225-2A>G (splice defect) ND No 1 No 15 c.1390C>T (p.Arg464X) ND Yes 11 Yes 16 c.1553G>A (p.Arg518 Gln) ND Yes 20 Yes 17 c.1567C>T (p.Leu523Phe) ND No 1 No 18 c.1609C>T (p.Gln537X) ND No 1 No 28 c.1619T>G (p.Phe540Cys) ND No 1 No 19 c.1679C>T (p.Pro560Leu) ND Yes 20 Yes 29 c.1679C>T (p.Pro560Leu) ND Yes 20 Yes 20 exon3 to exon10 deletion ND Yesb 9 N/A 30 c.1781-1G>A ND No 1 No 21 c.1816T>C (p.Ser606Pro) ND Yes 3 No 31 c.1850G>A (p.Arg617His) ND Yes 20 Yes 22 c.1876G>A (p.Ala626Thr) ND Yes 10 Yes 23 c.1894A>C (p.Thr632Pro) ND No 2 No 1 c.1899C>A (p.Ser633Arg) Gonosomal Yes 2 Yes 24 c.1918 G>A (p.Glu640Lys) ND No 2 No 3 c.2030G>A (p.Gly677Asp) Gonadal No 1 Yes de novo mutation in male index case with childhood cerebral X-ALD;somatic and/or gonadal mosaicisim; de novo mutationND = none detected; N/A = not applicable; Color codes: in female carrier. Login to comment
128 ABCD1 p.Gly677Asp
X
ABCD1 p.Gly677Asp 21700483:128:3
status: NEW
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(p.Gly677Asp). Login to comment
138 ABCD1 p.Thr198Met
X
ABCD1 p.Thr198Met 21700483:138:38
status: NEW
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A single sequence change, c.593CNG (p.Thr198Met), was identified in the heterozygous state. Login to comment