Abstract
BackgroundCongenital 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.MethodsThe 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.ResultsPosterior 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.ConclusionsThe mutation c.797_814del, p.Ser266_Ala271del is a novel mutation in the conserved DNA-binding OAR domain of PITX3 that causes congenital cataract.
Highlights
Congenital cataract is the most common cause of blindness among children worldwide
Congenital cataract is defined as lens opacity that occurs at birth or during the first decade of life
We present two members of a four-generation family with isolated autosomal dominant posterior subcapsular cataract
Summary
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. With an estimated incidence of 1 to 7.2 cases per 10,000 live births [1,2,3], congenital cataract is responsible for 10 to 38% of pediatric blindness worldwide [4]. Genetic studies have identified over 100 causative genes for congenital cataract, including many with minor additional features (e.g., ABCA3 [7], CRYAA [8]). Among these genes, over 30 causative genes have been implicated in association with isolated inherited congenital cataract. These genes may be arbitrarily divided into four major groups [9]: crystallin genes, membrane protein genes, cytoskeletal protein genes, and DNA- or RNA-binding protein genes
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
