Novel Homozygous Missense Variant in <i>GJA3</i> Connexin Domain Causing Congenital Nuclear and Cortical Cataracts

Novel Homozygous Missense Variant in <i>GJA3</i> Connexin Domain Causing Congenital Nuclear and Cortical Cataracts

Congenital cataracts (CC) are responsible for approximately one-tenth of childhood blindness cases globally. Here, we report an African American family with a recessively inherited form of CC. The proband demonstrated decreased visual acuity and bilateral cataracts, with nuclear and cortical catarac...

Full description

Bibliographic Details
Main Authors: Abdullah Y. Hassan, Sairah Yousaf, Moran R. Levin, Osamah J. Saeedi, Saima Riazuddin, Janet L. Alexander, Zubair M. Ahmed
Format: Article
Language:English
Published: MDPI AG 2021-12-01
Series:International Journal of Molecular Sciences
Subjects:
<i>GJA3</i>
congenital cataract
African American
exome sequencing
nuclear cataract
cortical cataract
Online Access:https://www.mdpi.com/1422-0067/23/1/240

Internet

https://www.mdpi.com/1422-0067/23/1/240

Similar Items