Novel Homozygous Missense Variant in Connexin Domain Causing Congenital Nuclear and Cortical Cataracts.
AuthorHassan, Abdullah Y
Levin, Moran R
Saeedi, Osamah J
Alexander, Janet L
Ahmed, Zubair M
JournalInternational Journal of Molecular Sciences
MetadataShow full item record
AbstractCongenital 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 cataracts in the right and left eye, respectively. Exome sequencing revealed a novel homozygous variant (c.563A > G; p.(Asn188Ser)) in GJA3, which was predicted to be pathogenic by structural analysis. Dominantly inherited variants in GJA3 are known to cause numerous types of cataracts in various populations. Our study represents the second case of recessive GJA3 allele, and the first report in African Americans. These results validate GJA3 as a bona fide gene for recessively inherited CC in humans.
Identifier to cite or link to this itemhttp://hdl.handle.net/10713/17512
- Whole Exome Sequencing Reveals Novel and Recurrent Disease-Causing Variants in Lens Specific Gap Junctional Protein Encoding Genes Causing Congenital Cataract.
- Authors: Berry V, Ionides A, Pontikos N, Moghul I, Moore AT, Quinlan RA, Michaelides M
- Issue date: 2020 May 6
- Mutational screening of Indian families with hereditary congenital cataract.
- Authors: Ponnam SP, Ramesha K, Matalia J, Tejwani S, Ramamurthy B, Kannabiran C
- Issue date: 2013
- A novel mutation in the connexin 46 (GJA3) gene associated with congenital cataract in a Chinese pedigree.
- Authors: Ding X, Wang B, Luo Y, Hu S, Zhou G, Zhou Z, Wang J, Ma X, Qi Y
- Issue date: 2011
- Identification of a novel GJA3 mutation in congenital nuclear cataract.
- Authors: Yuan L, Guo Y, Yi J, Xiao J, Yuan J, Xiong W, Xu H, Yang Z, Zhang J, Deng H
- Issue date: 2015 Mar
- New genetic model rat for congenital cataracts due to a connexin 46 (Gja3 ) mutation.
- Authors: Yoshida M, Harada Y, Kaidzu S, Ohira A, Masuda J, Nabika T
- Issue date: 2005 Nov