期刊论文

Deng, H

英文

BIOSCIENCE REPORTS

0144-8463

2018

38

2

BSR20171300.

10.1042/BSR20171300

This work was supported by the National Key Research and Development Program of China [grant number 2016YFC1306604]; the National Natural Science Foundation of China [grant number 81670216]; the Natural Science Foundation of Hunan Province [grant numbers 2015JJ4088, 2016JJ2166); the Grant for the Foster Key Subject of the Third Xiangya Hospital Clinical Laboratory Diagnostics; the New Xiangya Talent Project of the Third Xiangya Hospital of Central South University [grant number 20150301]; the Scientific Research Fund of Hunan Provincial Education [grant number 17B194]; the National-level College Students’ Innovative Training Plan Program [grant numbers 201710533217, 201710533227]; and the Undergraduate Innovative Free Exploration Program of Central South University, China [grant number ZY20171017].

本校为第一机构

Retinitis pigmentosa (RP) is a group of hereditary, degenerative retinal disorders characterized by progressive retinal dysfunction, outer retina cell loss, and retinal tissue atrophy. It eventually leads to tunnel vision and legal or total blindness. Here, we aimed to reveal the causal gene and mutation contributing to the development of autosomal recessive RP (arRP) in a consanguineous family. A novel homozygous mutation, c.4845delT (p.K1616Rfs∗46), in the ATP-binding cassette subfamily A member 4 gene (ABCA4) was identified. It may reduce A...