{Reference Type}: Journal Article
{Title}: First report of an Ivorian family with nonsyndromic hearing loss caused by GJB2 compound heterozygous variants.
{Author}: Toure M;Amalou G;Raise IA;Mobio NMA;Malki A;Barakat A;
{Journal}: Ann Hum Genet
{Volume}: 0
{Issue}: 0
{Year}: 2024 Aug 2
{Factor}: 2.18
{DOI}: 10.1111/ahg.12574
{Abstract}: The primary etiology of congenital hearing loss is attributed to genetic factors, with GJB2 identified as a pivotal gene across diverse ethnic groups. Additionally, nonsyndromic hearing loss is predominantly inherited in an autosomal recessive manner. We used Sanger sequencing to analyze GJB2 in 17 deaf children from 13 unrelated Ivory Coast families. One family had two children born with severe congenital deafness and exhibited pathogenic compound heterozygous variants. These variants included a nonsense substitution (c.132G > A or p.Trp44Ter) and a newly discovered duplication of 7 base pairs (c.205_211dupTTCCCCA or p.Ser72ProfsTer32). Segregation testing confirmed these variants, marking the first identification of GJB2 in an Ivorian family with congenital hearing loss.