ABCMdb

PMID: 25264593

Hosen MJ, Van Nieuwerburgh F, Steyaert W, Deforce D, Martin L, Leftheriotis G, De Paepe A, Coucke PJ, Vanakker OM
Efficiency of exome sequencing for the molecular diagnosis of pseudoxanthoma elasticum.
J Invest Dermatol. 2015 Apr;135(4):992-8. doi: 10.1038/jid.2014.421. Epub 2014 Sep 29., [PubMed]

Sentences

No. Mutations Sentence Comment

81 ABCC6 p.Arg518Gln To rule out a whole exon deletion on one allele for the p.(R518Q) mutation in ABCC6, MLPA was also performed for patients P1 (with 3 ABCC6 mutation), which revealed no additional deletion. Login to comment 89 ABCC6 p.Arg1141* ABCC6 p.Arg1141* ABCC6 p.Arg1138Gln ABCC6 p.Arg1164* ABCC6 p.Arg518Gln ABCC6 p.Arg518Gln ABCC6 p.Arg765Gln ABCC6 p.Glu1400Lys ABCC6 p.Gly755Arg ABCC6 p.Leu495His ABCC6 p.Gln1406Lys ABCC6 p.Pro40Ser ABCC6 p.Trp971Arg ABCC6 p.Leu1011Pro List of mutations found by WES and SS Gene Nucleotide change Protein change Patient ID Hom/Het WES SS Known/PUR Reference ABCC6 c.C118T p.(P40S) P10 Het O O PUR ABCC6 c.998 &#fe; 2 998 &#fe; 3del TG P8 Het O O PUR ABCC6 c.T1484A p.(L495H) P7 Het O O Known Miksch et al., 2005 ABCC6 c.G1553A p.(R518Q) P11 Hom O O Known Uitto et al., 2001 ABCC6 c.G1553A p.(R518Q) P12, P13, P14 Het O O Known Uitto et al., 2001 ABCC6 c.G2263A p.(G755R) P11 Het O O Known Pfendner et al., 2007 ABCC6 c.G2294A p.(R765Q) P3 Het O O Known Le Saux et al., 2001 ABCC6 del2860_2865 P12, P13,14 Het O O PUR ABCC6 c.T2911C p.(W971R) P11 Het O O PUR ABCC6 Ex23_24del P2 Hom O O Known Ringpfeil et al., 2001 ABCC6 c.T3032C p.(L1011P) P9 Hom O O PUR ABCC6 c.C3190T p.(A1064T) P7 Het O O Known Miksch et al., 2005 ABCC6 c.G3413A p.(R1138Q) P11 Het O O Known Le Saux O, 2011 ABCC6 c.C3421T p.(R1141X) P4 Hom O O Known Bergen et al., 2000 ABCC6 c.C3421T p.(R1141X) P52 , P8, P162 Het O O Known Bergen et al., 2000 ABCC6 c.C3490T p.(R1164X) P6, P15 Hom O O Known Struk et al., 2000 ABCC6 c.G4198A p.(E1400K) P10 Het O O Known Chassaing et al., 2004 ABCC6 c.C4216A p.(Q1406K) P3 Het O O PUR GGCX c.C1321T p.(R441C) P7 Het O O PUR Het, heterozygous; Hom, homozygous; PUR, previously unreported; SS, Sanger sequencing; WES, whole-exome sequencing. Login to comment 99 ABCC6 p.Arg1141* In some of these, the p.(R1141X) mutation has been correlated with the presence of coronary artery disease (Trip et al., 2002; Sherer et al., 2001). Login to comment 100 ABCC6 p.Arg1141* In our cohort, two heterozygous patients, P5 and P16, carry the p.(R1141X) mutation (Table 2). Login to comment 103 ABCC6 p.Leu495His In patient P7, we observed compound heterozygosity for two ABCC6 missense substitution (p.(L495H) and p.(A1064T)) mutations, as well as a co-inherited missense substitution (p.(R441C)) mutation in the GGCX gene. Login to comment