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Article

Whole Exome Sequencing Identifies a Novel Mutation in the PITX3 Gene, Causing Autosomal Dominant Congenital Cataracts in a Chinese Family.

Annals of clinical and laboratory science - 1 Jan 2017

Liu Hui, Liu Hankui, Tang Junxiang, Lin Qiongfen, Sun Yuxiu, Wang Chaohong, Yang Huanming, Khan Muhammad Riaz, Peerbux Mohamud Walid, Ahmad Sohail, Bukhari Ihtisham, Zhu Jiansheng

Abstract excerpt

BACKGROUND: Congenital cataract is the cloudiness of the eye's natural lens and is a primary cause of congenital vision loss. It accounts for almost 10% of childhood vision loss worldwide. METHODS: A four generation Chinese family having seven affected individuals was recruited for the current study. Exome sequencing was performed to identify the genetic cause of congenital cataract. RESULTS: Analysis of data...

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PMID: 28249924

Genes

PITX3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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