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Kandaswamy, D.K. ; Prakash, M.V.S.* ; Graw, J. ; Koller, S.* ; Magyar, I.* ; Tiwari, A.* ; Berger, W.* ; Santhiya, S.T.*

Application of WES towards molecular investigation of congenital cataracts: Identification of novel alleles and genes in a hospital-based cohort of South India.

Int. J. Mol. Sci. 21:9569 (2020)
Publ. Version/Full Text Research data DOI PMC
Open Access Gold
Creative Commons Lizenzvertrag
Congenital cataracts are the prime cause for irreversible blindness in children. The global incidence of congenital cataract is 2.2–13.6 per 10,000 births, with the highest prevalence in Asia. Nearly half of the congenital cataracts are of familial nature, with a predominant autosomal dominant pattern of inheritance. Over 38 of the 45 mapped loci for isolated congenital or infantile cataracts have been associated with a mutation in a specific gene. The clinical and genetic heterogeneity of congenital cataracts makes the molecular diagnosis a bit of a complicated task. Hence, whole exome sequencing (WES) was utilized to concurrently screen all known cataract genes and to examine novel candidate factors for a disease-causing mutation in probands from 11 pedigrees affected with familial congenital cataracts. Analysis of the WES data for known cataract genes identified causative mutations in six pedigrees (55%) in PAX6, FYCO1 (two variants), EPHA2, P3H2, TDRD7 and an additional likely causative mutation in a novel gene NCOA6, which represents the first dominant mutation in this gene. This study identifies a novel cataract gene not yet linked to human disease. NCOA6 is a transcriptional coactivator that interacts with nuclear hormone receptors to enhance their transcriptional activator function.
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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
Keywords Clinical Heterogeneity ; Congenital Cataract ; Epha2 ; Fyco1 ; Genetic Heterogeneity ; Hearing And Speech Impairment ; Ncoa6 ; P3h2 ; Pax6 ; Tdrd7 ; Wes; Missense Mutations; Pax6; Modulator; Genetics; Spectrum; Bodies; Tdrd7; Box
ISSN (print) / ISBN 1422-0067
e-ISSN 1661-6596
Journal International Journal of Molecular Sciences
Quellenangaben Volume: 21, Issue: 24, Pages: , Article Number: 9569 Supplement: ,
Publisher MDPI
Publishing Place Basel
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Developmental Genetics (IDG)
Grants DAAD