Ahmed Al-Amri
National Genetic Center Royal hospital, Oman
Title: A novel LHFPL5 mutation causes autosomal recessive hearing loss in an Omani family.
Biography
Biography: Ahmed Al-Amri
Abstract
Hearing loss is a debilitating disorder that impairs language acquisition, resulting in disability in children and potential isolation in adulthood. Its onset can have a genetic basis, though environmental factors which are often preventable can also cause the condition. The genetic forms are highly heterogeneous and early detection is necessary to arrange appropriate patient support. Here we report the molecular basis of hereditary hearing loss in a consanguineous family with multiple affected members from Oman. Combining homozygosity mapping with whole exome sequencing identified a novel homozygous nucleotide substitution c.575T>C in the lipoma HMGIC fusion partner-like 5 gene (LHFPL5), that converted the 192nd amino acid residue in the protein from a leucine to a proline, p.(Leu192Pro). Sanger sequencing confirmed segregation with the disease phenotype as expected for a recessive condition and the variant was absent in 60,706 subjects from various disease-specific and population genetic studies as well as 50 unrelated individuals of Omani ethnicity. This study, which describes a novel LHFPL5 mutation in a family of Omani origin with hereditary hearing loss, supports previous clinical descriptions of the condition and contributes to the genetic spectrum of mutations in this form of deafness. This is the first report of a family from the Arabian Peninsula with this form of deafness