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dc.contributor.authorHassan, Abdullah Y
dc.contributor.authorYousaf, Sairah
dc.contributor.authorLevin, Moran R
dc.contributor.authorSaeedi, Osamah J
dc.contributor.authorRiazuddin, Saima
dc.contributor.authorAlexander, Janet L
dc.contributor.authorAhmed, Zubair M
dc.date.accessioned2022-01-18T21:07:51Z
dc.date.available2022-01-18T21:07:51Z
dc.date.issued2021-12-27
dc.identifier.urihttp://hdl.handle.net/10713/17512
dc.description.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.en_US
dc.description.urihttps://doi.org/10.3390/ijms23010240en_US
dc.language.isoenen_US
dc.publisherMDPI AGen_US
dc.relation.ispartofInternational Journal of Molecular Sciencesen_US
dc.subjectAfrican Americanen_US
dc.subjectGJA3en_US
dc.subjectcongenital cataracten_US
dc.subjectcortical cataracten_US
dc.subjectexome sequencingen_US
dc.subjectnuclear cataracten_US
dc.titleNovel Homozygous Missense Variant in Connexin Domain Causing Congenital Nuclear and Cortical Cataracts.en_US
dc.typeArticleen_US
dc.identifier.doi10.3390/ijms23010240
dc.identifier.pmid35008666
dc.source.journaltitleInternational journal of molecular sciences
dc.source.volume23
dc.source.issue1
dc.source.countryUnited States
dc.source.countrySwitzerland


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