Abstract
Background GJB2 mutation is the most common cause of genetic deafness. Many pathogenic variations have already been identified, and thus, fewer and fewer novel pathogenic variations remain to be identified. Here, we describe a novel pathogenic variation associated with dominant hereditary deafness in a Chinese family. Methods In this study, we examined four generations of a Chinese family (M127) with hearing loss. Temporal CT scan, complete physical examination (including skin and hair), and audiological tests were performed. Targeted next-generation and Sanger sequencing were used to identify pathogenic mutations in affected individuals. Results All patients exhibited prelingual nonsyndromic sensorineural hearing loss, with severity ranging from moderate to severe. A novel dominant pathogenic variant c.205T > C (p.Phe69Leu) was identified in all patients in this family. Conclusions c.205T > C (p.Phe69Leu) was identified as a novel dominant pathogenic variant of GJB2 associated with prelingual nonsyndromic sensorineural hearing loss.GJB2 mutation is the most common cause of genetic deafness. Many pathogenic variations have already been identified, and thus, fewer and fewer novel pathogenic variations remain to be identified. Here, we describe a novel pathogenic variation associated with dominant hereditary deafness in a Chinese family.
Highlights
Using a combination of pedigree mapping and genetic sequencing, we found that the hearing loss experienced by members of family M217 appears to be the result of autosomal dominant hereditary deafness
We identified a novel variation, c.205T > C (p.Phe69Leu), in GJB2 in this family
Within family M217, all affected members were found to possess the c.205T > C and c.109G > A variations. These mutations were consistently passed down as a pair due to their location on the same chromosome, as evidenced by analysis of the individual probands. It has been controversial about the relationship between c.109G > A variation and the hearing phenotype, but most viewpoints supported c.109G > A was a pathogenic variation
Summary
GJB2 mutation is the most common cause of genetic deafness. Many pathogenic variations have already been identified, and fewer and fewer novel pathogenic variations remain to be identified. We describe a novel pathogenic variation associated with dominant hereditary deafness in a Chinese family. We examined four generations of a Chinese family (M127) with hearing loss. Targeted next-generation and Sanger sequencing were used to identify pathogenic mutations in affected individuals. All patients exhibited prelingual nonsyndromic sensorineural hearing loss, with severity ranging from moderate to severe. A novel dominant pathogenic variant c.205T > C (p.Phe69Leu) was identified in all patients in this family. C.205T > C (p.Phe69Leu) was identified as a novel dominant pathogenic variant of GJB2 associated with prelingual nonsyndromic sensorineural hearing loss Conclusions. c.205T > C (p.Phe69Leu) was identified as a novel dominant pathogenic variant of GJB2 associated with prelingual nonsyndromic sensorineural hearing loss
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