ABCMdb

ABCA4 p.His2032Arg

Predicted by SNAP2:	A: D (66%), C: D (80%), D: D (66%), E: D (63%), F: D (63%), G: D (71%), I: D (59%), K: D (59%), L: D (63%), M: D (59%), N: D (63%), P: D (71%), Q: D (59%), R: N (53%), S: D (63%), T: D (53%), V: D (59%), W: D (75%), Y: D (85%),
Predicted by PROVEAN:	A: D, C: D, D: D, E: D, F: D, G: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D,

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Publications
[hide] Molecular diagnosis of putative Stargardt disease ... PLoS One. 2014 Apr 24;9(4):e95528. doi: 10.1371/journal.pone.0095528. eCollection 2014. 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., [PMID:24763286]

Abstract [show]
Stargardt Disease (STGD) is the commonest genetic form of juvenile or early adult onset macular degeneration, which is a genetically heterogeneous disease. Molecular diagnosis of STGD remains a challenge in a significant proportion of cases. To address this, seven patients from five putative STGD families were recruited. We performed capture next generation sequencing (CNGS) of the probands and searched for potentially disease-causing genetic variants in previously identified retinal or macular dystrophy genes. Seven disease-causing mutations in ABCA4 and two in PROM1 were identified by CNGS, which provides a confident genetic diagnosis in these five families. We also provided a genetic basis to explain the differences among putative STGD due to various mutations in different genes. Meanwhile, we show for the first time that compound heterozygous mutations in PROM1 gene could cause cone-rod dystrophy. Our findings support the enormous potential of CNGS in putative STGD molecular diagnosis.

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Sentences [show]
No. Sentence Comment
156 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