A novel mutation in the OAR domain of PITX3 associated with congenital posterior subcapsular cataract | BMC Medical Genetics | Full Text

A novel mutation in the OAR domain of PITX3 associated with congenital posterior subcapsular cataract | BMC Medical Genetics | Full Text

BMC Medical Genetics

A novel mutation in the OAR domain of PITX3associated with congenital posterior subcapsular cataract

• Qi Fan,
• Dan Li,
• Lei Cai,
• Xiaodi Qiu,
• Zhennan Zhao,
• Jihong Wu,
• Jin Yang†Email author and
• Yi Lu†Email authorView ORCID ID profile

†Contributed equally

BMC Medical Genetics201920:42

https://doi.org/10.1186/s12881-019-0782-2

©  The Author(s). 2019

• Received: 9 August 2018
• Accepted: 11 March 2019
• Published: 20 March 2019

Open Peer Review reports

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 PITX3gene 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.

Keywords

• Congenital cataract
• PITX3
• The OAR domain