ABCMdb

PMID: 24763286

Zhang X, Ge X, Shi W, Huang P, Min Q, Li M, Yu X, Wu Y, Zhao G, Tong Y, Jin ZB, Qu J, Gu F
Molecular diagnosis of putative Stargardt disease by capture next generation sequencing.
PLoS One. 2014 Apr 24;9(4):e95528. doi: 10.1371/journal.pone.0095528. eCollection 2014., [PubMed]

Sentences

No. Mutations Sentence Comment

128 ABCA4 p.Gly863Ala There are reports that ''population-specific`` ABCA4 alleles, such as p.G863A/delG863, are founder mutations in Northern European patients. Login to comment 130 ABCA4 p.Arg602Trp ABCA4 p.Arg2038Trp ABCA4 p.Gly607Arg ABCA4 p.Ala1773Val Among these four reported mutations, p.A1773V in ABCA4 was reported as one of the founder mutations (up to17%) in Latin American population [18]; p.R2038W mutation in USA, Estonia and South African population; p.R602W mutation in USA, South African population [2,3,19]; G607R in the German population[20]. Login to comment 131 ABCA4 p.Arg602Trp ABCA4 p.Arg2038Trp ABCA4 p.Ala1773Val Taken together, this study confirmed that these four mutations are pathogenic mutations and among these four reported mutations, p.A1773V, p.R2038W and p.R602W may have higher allele frequencies since they were frequently reported in different populations. Login to comment 132 ABCA4 p.Arg2038Trp ABCA4 p.Gly607Arg We observed two mutations (p.R2038W and p.G607R) [1,2], which Figure 5. Login to comment 141 ABCA4 p.Gly607Arg ABCA4 p.Gly607Arg We speculate that the p.G607R mutation may have a higher allelic frequency, because the patient from family C has homozygous mutation of p.G607R and the parents come from different regions. Login to comment 142 ABCA4 p.Thr1428Met ABCA4 p.Arg2040* One previous study of STGD in the Chinese population, screened part of ABCA4 coding sequence (15 exons) and identified two relatively common mutations: T1428M and R2040X [21]. Login to comment 156 ABCA4 p.Arg602Trp ABCA4 p.Arg2038Trp ABCA4 p.His2032Arg Allele frequency Family Gene Identified Mutations (Exon) Reported or novel SIFT PolyPhen PANTHER 1000G ESP6500 In-house A ABCA4 c.5318C.T;p.A1773V (Exon 38) Reported D $ PD $ T $ 0 0 0 c.4128+1 G.T (Exon 27) Novel N/A N/A N/A 0 0 0 B ABCA4 c.6112C.T; p.R2038W (Exon 44) Reported D $ PD $ De $ 0 0.00008 0 c.1804C.T; p. R602W (Exon 13) Reported D $ Benign De $ 0 0 0 C ABCA4 c.1819G.A;p.G607R(Exon 13, Homo*) Reported D $ PD $ De $ 0 0.000077 0 D ABCA4 c.6095A.G; p.H2032R (Exon 44) Novel D $ PD $ De $ 0 0 0 c.3420C.G;p.C1140W (Exon 23) Novel D $ PD $ De $ 0 0 0 E PROM1 c.730C.T; p.R244X (Exon 6) Novel N/A N/A N/A 0 0 0 c.1983+1 C.T (Exon18) Novel N/A N/A N/A 0 0 0 $ D: Damaging; PD, Possibly damaging; T, Tolerated; DE,Deleterious; N/A, No Answer; *Homo, Homozygous mutation; , SIFT (http://sift.jcvi.org/); PolyPhen (http://genetics.bwh.harvard.edu/pph2/). Login to comment