Biallelic Mutations inCRB1Underlie Autosomal Recessive Familial Foveal Retinoschisis
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چکیده
منابع مشابه
Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis.
PURPOSE To identify the genetic cause of autosomal recessive familial foveal retinoschisis (FFR). METHODS A female sibship with FFR was identified (Family-A; 17 and 16 years, respectively); panel based genetic sequencing (132 genes) and comparative genome hybridization (142 genes) were performed. Whole-exome sequencing (WES) was performed on both siblings using the Illumina-HiSeq-2500 platfor...
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We describe hereditary retinoschisis without foveal retinoschisis in a girl (the product of a consanguineous marriage) and her father. The father had peripheral retinoschisis with dendritic changes of the retina and good visual acuity. The daughter had peripheral retinoschisis complicated by vitreous haemorrhage and retinal detachment. Neither had foveal retinoschisis. The pattern in a scotopic...
متن کاملVSX2 mutations in autosomal recessive microphthalmia
PURPOSE To further explore the spectrum of mutations in the Visual System Homeobox 2 (VSX2/CHX10) gene previously found to be associated with autosomal recessive microphthalmia. METHODS We screened 95 probands with syndromic or isolated developmental ocular conditions (including 55 with anophthalmia/microphthalmia) for mutations in VSX2. RESULTS Homozygous mutations in VSX2 were identified ...
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UNLABELLED COL4A3/COL4A4 mutations: From familial hematuria to autosomal-dominant or recessive Alport syndrome. BACKGROUND Mutations of the type IV collagen COL4A5 gene cause X-linked Alport syndrome (ATS). Mutations of COL4A3 and COL4A4 have been reported both in autosomal-recessive and autosomal-dominant ATS, as well as in benign familial hematuria (BFH). In the latter conditions, however, ...
متن کاملBiallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability.
Dendritic spines represent the major site of neuronal activity in the brain; they serve as the receiving point for neurotransmitters and undergo rapid activity-dependent morphological changes that correlate with learning and memory. Using a combination of homozygosity mapping and next-generation sequencing in two consanguineous families affected by nonsyndromic autosomal-recessive intellectual ...
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ژورنال
عنوان ژورنال: Investigative Opthalmology & Visual Science
سال: 2016
ISSN: 1552-5783
DOI: 10.1167/iovs.15-18281