A novel mutation in the vWFA2 domain of the COCH gene in an Italian DFNA9 family

• DOI: 10.3109/1651386x.2010.538523
• Publication Date: 2010-11-18T09:54:10Z
• Authors: Flavio Faletra; Nicola Pirastu; Emmanouil Athanas...; Alessio Somaschini; Giulia Pianigiani; Paolo Gasparini
• Keywords: 0301 basic medicine; 03 medical and health sciences; mendelian disorder; Deafness; genetics; mendelian disorder; Deafne; genetic

AbstractObjective: Hearing loss (HL) is the most common form of sensory impairment, affecting millions of individuals worldwide. Pre-lingual non-syndromic hearing loss is present in 1 in 700 children and in half of the cases the hearing impairment is caused by genetic factors. Methods: We analysed an Italian family with a bilateral sensorineural HL present in several family members and inherited in an autosomal dominant manner. To perform a linkage study, subjects were genotyped with high density SNP arrays. Parametric linkage analysis using Merlin detected a significant 40-Mb locus on chromosome 14. Since the COCH gene, already known to be involved in causing HL, was located within this interval, a mutational search was carried out. Result: A novel mutation (p.A487P) affecting a highly conserved residue located within the vWFA2 domain was detected and segregates with the disease. Conclusion: This is the first Italian case of HL due to mutations within the COCH gene and it is also the first one showing so...