Novel Homozygous Missense Variant in GJA3 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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:International journal of molecular sciences 2021-12, Vol.23 (1), p.240
Hauptverfasser: Hassan, Abdullah Y, Yousaf, Sairah, Levin, Moran R, Saeedi, Osamah J, Riazuddin, Saima, Alexander, Janet L, Ahmed, Zubair M
Format: Artikel
Sprache:eng
Schlagworte:
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Beschreibung
Zusammenfassung: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 cataracts in the right and left eye, respectively. Exome sequencing revealed a novel homozygous variant (c.563A > G; p.(Asn188Ser)) in , which was predicted to be pathogenic by structural analysis. Dominantly inherited variants in are known to cause numerous types of cataracts in various populations. Our study represents the second case of recessive allele, and the first report in African Americans. These results validate as a bona fide gene for recessively inherited CC in humans.
ISSN:1422-0067
1661-6596
1422-0067
DOI:10.3390/ijms23010240