95 RESULTS OF THE MUTATION ANALYSIS IN THE ABBC6 GENE IN 76 PATIENTS Sequence Type AA change variation Location Alleles Statusa Phaseb Method Nonsense Q749X 2247 C → T Exon 17 2 ht 3 DHPLC R1141X 3421 C → T Exon 24 35 hm.ht.ch 1 Bsi YI Missense R765Q 2294G → A Exon 18 1 ht 2 Sma I R1114H 3341G → A Exon 24 1 ht 3 dHPLC T1130M 3390C → T Exon 24 2 ch 3 dHPLC R1221C 3663C → T Exon 26 1 ch 3 dHPLC G1302R 3904G → A Exon 28 1 ht 2 Nci I A1303P 3907G → C Exon 28 1 ch 2 Hae III D1326N 3999G → A Exon 28 1 ht 3 dHPLC K1394N 4182G → T Exon 29 1 ch 3 dHPLC R1459C 4377C → T Exon 30 1 ht 2 Aci I Frameshift Splicing IVS17-12delTT Intron 17 1 ht 3 dHPLC IVS26-1G → A Intron 26 1 ht 3 dHPLC Deletion 1944del22 Exon 16 2 ht,ch 2 PCR 4182delG Exon 29 6 hm,ht 3 dHPLC 3775delT Exon 27 11 hm,ht 2 Bst NI 3821del48 Exon 27 1 ht 2 PCR Insertion 4220insAGAA Exon 30 1 ht 3 dHPLC Deletion A995del405 del exon 23-29 Exon 23-29 17 hm,ht,ch,hem 1 PCR ABCC6 2 ht 4 FISH ahm, homozygote; ht, heterozygote; ch, compound heterozygote; hem, hemizygote.

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ABCC6 p.Asp1326Asn 15727254:95:527

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162 Ten additional known nucleotide changes, including Q749X, R1114H, T1130M, R1221C, D1326N, K1394N, 4182delG, IVS17-12delTT, IVS26-1G Ǟ A, and 4220ins AGAA were successfully identified by dHPLC under the conditions presented in Table 1 (Fig. 3).

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ABCC6 p.Asp1326Asn 15727254:162:82

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196 In addition, two additional novel mutant alleles (IVS 26-1 g Ǟ a, D1326N), which were missed by SSCP analysis previously, were identified.

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ABCC6 p.Asp1326Asn 15727254:196:72

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272 Internetadressen PXE-Selbsthilfegruppe Deutschland : http://www.pxe-groenblad.de PXE International: http://www.pxe.org Tabelle 5 PXE verursachende Mutationen imabcc6-Gen Klassifikation Lokalisation Gen Protein Missense Exon 9 Exon 9 Exon 10 Exon 10 Exon 11 Exon 12 Exon 13 Exon 14 Exon 16 Exon 18 Exon 18 Exon 18 Exon 18 Exon 19 Exon 19 Exon 19 Exon 22 Exon 24 Exon 24 Exon 24 Exon 24 Exon 24 Exon 24 Exon 24 Exon 24 Exon 24 Exon 25 Exon 26 Exon 26 Exon 26 Exon 28 Exon 28 Exon 28 Exon 28 Exon 28 Exon 28 Exon 28 Exon 28 Exon 28 Exon 28 Exon 28 Exon 28 Exon 28 Exon 29 Exon 29 Exon 29 Exon 29 Exon 29 Exon 30 Exon 30 Exon 30 c.1091CaG c.1171AaG c.1233TaG c.1318TaG c.1363GaC c.1553GaA c.1703TaC c.1798CaT c.2018TaC c.2252TaA c.2278CaT c.2294GaA c.2297CaA c.2428GaA c.2458GaC c.2552TaC c.2855TaG c.3340CaT c.3341GaA c.3341GaC c.3362CaG c.3380CaT c.3389CaT c.3412CaT c.3413GaA c.3413GaC c.3608GaA c.3661CaT c.3712GaC c.3715TaC c.3892GaT c.3902CaT c.3904GaA c.3907GaC c.3932GaA c.3940CaT c.3941GaA c.3961GaA c.3976GaA c.4004TaC c.4015CaT c.4036CaT c.4041GaC c.4060GaC c.4069CaT c.4081GaA c.4182GaT c.4198GaA c.4209CaA c.4271TaC c.4377CaT p.T364R p.R391G p.N411K p.C440G p.A455P p.R518Q p.F568S p.R600G p.L673P p.M751K p.R760W p.R765Q p.A766D p.V810M p.A820P p.L851P p.F952C p.R1114C p.R1114H p.R1114P p.S1121W p.M1127T p.T1130M p.R1138W p.R1138Q p.R1138P p.G1203D p.R1221C p.D1238H p.Y1239H p.V1298F p.T1301I p.G1302R p.A1303P p.G1311E p.R1314W p.R1314Q p.G1321S p.D1326N p.L1335P p.R1339C p.P1346S p.Q1347H p.G1354R p.R1357W p.D1361N p.K1394N p.E1400K p.S1403R p.I1424T p.R1459C Klassifikation Lokalisation Gen Protein Nonsense Exon 9 Exon 12 Exon 17 Exon 18 Exon 23 Exon 24 Exon 24 Exon 26 Exon 26 Exon 27 Exon 29 c.1132CaT c.1552CaT c.2247CaT c.2304CaA c.3088CaT c.3421CaT c.3490CaT c.3668GaA c.3709CaT c.3823CaT c.4192CaT p.Q378X p.R518X p.Q749X p.Y768X p.R1030X p.R1141X p.R1164X p.W1223X p.Q1237X p.R1275X p.R1398X Spleißstellen Intron 21 Intron 25 Intron 26 c.2787+1GaT c.3634-3CaA c.3736-1GaA Insertion Exon 8 Exon 25 Exon 30 c.938-939insT c.3544dupC c.4220insAGAA Deletion Exon 2 Exon 2 Exon 3 Exon 8 Exon 9 Exon 16 Exon 16 Exon 18 Exon 19 Exon 22 Exon 27 Exon 29 Exon 29 Exon 30 Exon 31 c.179del9 c.179-195del c.220-222del c.960delC c.1088-1120del c.1944del22 c.1995delG c.2322delC c.2542delG c.2835-2850del16 c.3775delT c.4101delC c.4182delG c.4318delA c.4434delA Intragenische Deletion Exon 15 Exon 18 Exon 23-29 delEx15 delEx18 delEx23-29 Intergenische Deletion ABCC6 delABCC6 Fazit für die Praxis Eine spezifische Behandlung der Grunderkrankung ist nicht bekannt.

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ABCC6 p.Asp1326Asn 16763870:272:1463

status: NEW

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