Mutation of IPO13 causes recessive ocular coloboma, microphthalmia, and cataract
نویسندگان
چکیده
منابع مشابه
Mutation of SALL2 causes recessive ocular coloboma in humans and mice
Ocular coloboma is a congenital defect resulting from failure of normal closure of the optic fissure during embryonic eye development. This birth defect causes childhood blindness worldwide, yet the genetic etiology is poorly understood. Here, we identified a novel homozygous mutation in the SALL2 gene in members of a consanguineous family affected with non-syndromic ocular coloboma variably af...
متن کاملA missense mutation in LIM2 causes autosomal recessive congenital cataract
PURPOSE To identify mutations in the LIM2 gene in families with hereditary congenital or juvenile-onset cataract. METHODS Forty families (total of 100 affected and 84 unaffected individuals) were recruited for the study. Probands were screened for pathogenic alterations in 10 different candidate genes including the lens intrinsic membrane protein-2 (LIM2) gene. Exons and flanking regions were...
متن کاملDeficient FGF signaling causes optic nerve dysgenesis and ocular coloboma.
FGF signaling plays a pivotal role in eye development. Previous studies using in vitro chick models and systemic zebrafish mutants have suggested that FGF signaling is required for the patterning and specification of the optic vesicle, but due to a lack of genetic models, its role in mammalian retinal development remains elusive. In this study, we show that specific deletion of Fgfr1 and Fgfr2 ...
متن کاملMicrophthalmia, anophthalmia, and coloboma and associated ocular and systemic features: understanding the spectrum.
IMPORTANCE Microphthalmia, anophthalmia, and coloboma form an interrelated spectrum of congenital eye abnormalities. OBJECTIVE To document the ocular and systemic findings and inheritance patterns in patients with microphthalmia, anophthalmia, and coloboma disease to gain insight into the underlying developmental etiologies. DESIGN, SETTING, AND PARTICIPANTS This retrospective consecutive c...
متن کاملA recurrent de novo mutation in ACTG1 causes isolated ocular coloboma
Ocular coloboma (OC) is a defect in optic fissure closure and is a common cause of severe congenital visual impairment. Bilateral OC is primarily genetically determined and shows marked locus heterogeneity. Whole-exome sequencing (WES) was used to analyze 12 trios (child affected with OC and both unaffected parents). This identified de novo mutations in 10 different genes in eight probands. Thr...
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ژورنال
عنوان ژورنال: Experimental & Molecular Medicine
سال: 2018
ISSN: 1226-3613,2092-6413
DOI: 10.1038/s12276-018-0079-0