Exome sequencing analysis reveals homozygous GJB2 gene mutation in a Mexican family with profound hearing loss

• Published in: Revista medica del hospital general de mexico s.s.a Vol. 80; no. 2; pp. 77 - 80
• Main Authors: Martínez-Saucedo, M, Rivera-Vega, M.R, Gonzalez-Huerta, L.M, Urueta-Cuellar, H, Cuevas-Covarrubias, S
• Format: Journal Article
• Language: English
• Published: Masson Doyma México S.A 01-04-2017; Permanyer
• Subjects: Conexinas; Connexins; Gene GJB2; Gene mutations; GJB2 gene; Hipoacusia; Homocigoto; Homozygous; Hypoacusia; Medical/Surgical; Mutaciones génicas; GJB2 gene; Gene GJB2; Conexinas; Gene mutations; Mutaciones génicas; Hipoacusia; Connexins; Homocigoto; Homozygous; Hypoacusia
• ISSN: 0185-1063
• DOI: 10.1016/j.hgmx.2016.08.001

Abstract Background Sensorineural hearing loss (SNHL) is a clinically and genetically heterogeneous disease. In some populations, c.365delG mutation in the GJB2 gene represents the most frequent cause of hereditary SNHL. The great diversity of mutations in the GJB2 gene worldwide highlights the participation of ethnic background in SNHL. Objective To describe the presence of homozygous c.del35G mutation in the GJB2 gene in a Mexican family with SNHL. Materials and methods A Mexican family with SNHL was included in the study. Analysis of the GJB2 gene was performed through whole exome sequencing (WES) and DNA direct sequencing analysis in all members of the family and in 100 normal controls Results Affected sibs showed the homozygous c.del35G mutation in the GJB2 gene. Parents of the families were heterozygous for the molecular defect and had normal audition. Conclusion We describe a homozygous c.del35G mutation in the GJB2 gene through WES analysis, a homozygous mutation with a very low occurrence in Mexican population.