Identification of a novel frameshift mutation in the ILDR1 gene in a UAE family, mutations review and phenotype genotype correlation.
Autosomal Batteries recessive non-syndromic hearing loss is one of the most common monogenic diseases.It is characterized by high allelic and locus heterogeneities that make a precise diagnosis difficult.In this study, whole-exome sequencing was performed for an affected patient allowing us to identify a new frameshift mutation (c.804delG) in the I