ABCMdb

PMID: 12928920

Morcher M, Hausser I, Brandt T, Grond-Ginsbach C
Heterozygous carriers of Pseudoxanthoma elasticum were not found among patients with cervical artery dissections.
J Neurol. 2003 Aug;250(8):983-6., [PubMed]

Sentences

No. Mutations Sentence Comment

10 ABCC6 p.Arg1268Gln One patient with PXE was compound heterozygous for two missense point mutations, in the second patient with PXE we did not find changes in the ABCC6 gene.We observed several missense mutations (H623Q, R3190W and R1268Q) in the patients with sCAD, but these mutations were not disease specific, since they were also detected in a series of 25 healthy control subjects. Login to comment 35 ABCC6 p.Arg1268Gln ABCC6 p.Arg1064Trp We found three missense mutations in our patients with sCAD (H623Q, R1064W and R1268Q). Login to comment 37 ABCC6 p.Thr1130Met One patient with PXE carried two missense mutations (Leu946Ileu in exon 22 and Thr1130Met in exon 24, see Figs. Login to comment 45 ABCC6 p.Arg1141* ABCC6 p.Arg1268Gln ABCC6 p.Thr1130Met ABCC6 p.Arg1064Trp ABCC6 p.Leu946Ile However, the R1141X muTable ABCC6sequencevariationin12patientswithsCADand2patientswithPXE exon nucleotide Amino-acid Occurrence Occurrence position change among patients among controls 10 1233T¡C synonymous sCAD not tested 10 1245G¡A synonymous sCAD not tested 15 1890C¡G synonymous sCAD not tested 15 1896C¡A H623Q sCAD + 19 2490C¡T synonymous sCAD not tested 20 2631C¡A synonymous sCAD not tested 22 2835C¡T synonymous sCAD not tested 22 2836C¡A L946I PXE - 23 3190C¡T R1064W sCAD + 24 3389C¡T T1130M PXE - 27 3803G¡A R1268Q sCAD + tation is common in European patients, whereas a large deletion of exons 23-26 is repeatedly found in patients from the United States [22]. Login to comment 51 ABCC6 p.Arg1268Gln ABCC6 p.His632Gln ABCC6 p.Arg1064Trp Several missense mutations (H632Q in exon 15, R1064W in exon 23 and R1268Q in exon 27) were found. Login to comment 53 ABCC6 p.Arg1268Gln ABCC6 p.Asn411Lys A missense mutation (N411K) at this same nucleotide position was described as disease causing in a patient with PXE [13].The analysis of 25 control subjects revealed that none of the sequence variants found in the group of sCAD patients was specific, as each mutation was also detected among control subjects.Two of the missense mutations (H623Q and R1268Q) had already been found in healthy subjects [13, 18]. Login to comment 68 ABCC6 p.Gln378* Cai L, Lumsden A, Guenther UP, Neldner SA, Zach S, Knoblauch H, Ramesar R, Hohl D, Callen DF, Neldner KH, Lindpaintner K, Richards RI, Struk B (2001) A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene: implications for mutation analysis in pseudoxanthoma elasticum. Login to comment