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A novel mutation in the OAR domain of PITX3 associated with congenital posterior subcapsular cataract.


ABSTRACT: BACKGROUND:Congenital cataract is the most common cause of blindness among children worldwide. The aim of this study was to identify causative mutations in a Chinese family with isolated autosomal dominant posterior subcapsular cataract. METHODS:The proband and her parents underwent full ophthalmological examinations. DNA was extracted from the participants' peripheral venous blood. The mutation was identified via panel-based next-generation sequencing (NGS) and was validated via Sanger sequencing. RESULTS:Posterior subcapsular lenticular opacity was observed in both of the proband's eyes. The novel deletion mutation c.797_814del, p.Ser266_Ala271del in the PITX3 gene was identified in the proband and her father. This mutation is located within the otp/aristaless/rax (OAR) domain at the COOH-terminus of the protein, which functions in DNA binding and transactivation. This mutation would result in a deletion of 6 amino acid residues at the C terminal of the protein. CONCLUSIONS:The mutation c.797_814del, p.Ser266_Ala271del is a novel mutation in the conserved DNA-binding OAR domain of PITX3 that causes congenital cataract.

SUBMITTER: Fan Q 

PROVIDER: S-EPMC6425703 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature

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A novel mutation in the OAR domain of PITX3 associated with congenital posterior subcapsular cataract.

Fan Qi Q   Li Dan D   Cai Lei L   Qiu Xiaodi X   Zhao Zhennan Z   Wu Jihong J   Yang Jin J   Lu Yi Y  

BMC medical genetics 20190320 1


<h4>Background</h4>Congenital cataract is the most common cause of blindness among children worldwide. The aim of this study was to identify causative mutations in a Chinese family with isolated autosomal dominant posterior subcapsular cataract.<h4>Methods</h4>The proband and her parents underwent full ophthalmological examinations. DNA was extracted from the participants' peripheral venous blood. The mutation was identified via panel-based next-generation sequencing (NGS) and was validated via  ...[more]

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