Hearing Loss Gene Panel
Dr. rer. biol. hum. Soheyla Chahrokh-Zadeh
Bilateral, permanent, sensorineural hearing loss, with an incidence of 1:500 newborns, represents one of the most common congenital disorders. In adults the prevalence is rising to 3.5:1,000. The proportion of genetic, sensorineural deafness is approximately 50-70%. Only a small percentage of prelingual deafness is syndromic or follows an autosomal dominant or mitochondrial pattern of inheritance. More than 70% of genetic deafness is non-syndromic, about 80% of non-syndromic, genetic deafness follows an autosomal recessive pattern of inheritance. By studying the genes GJB2 and GJB6 approximately 50% of cases with autosomal recessive non-syndromic, sensorineural deafness can be clarified. Due to the clinical and genetic heterogeneity of congenital hearing impairment a stepwise diagnostic approach using NGS with an additional analysis of about 70 genes including mitochondrial genes, may be useful.
When requesting these panels pedigree information and the communication of comprehensive clinical data are mandatory to ensure correct interpretation of results.
All coding exons and their flanking intronic sequences from the genes in the hearing loss gene panel are analyzed either by Sanger sequencing or by next generation sequencing (NGS).