A novel mutation in the OAR domain of PITX3 associated with congenital posterior subcapsular cataract View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2019-12

AUTHORS

Qi Fan, Dan Li, Lei Cai, Xiaodi Qiu, Zhennan Zhao, Jihong Wu, Jin Yang, Yi Lu

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. More... »

PAGES

42

Journal

TITLE

BMC Medical Genetics

ISSUE

1

VOLUME

20

Author Affiliations

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/s12881-019-0782-2

DOI

http://dx.doi.org/10.1186/s12881-019-0782-2

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1112897294

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30894134


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