Identification of a novel frameshift mutation in the ILDR1 gene in a UAE family, mutations review and phenotype genotype correlation.

Identification of a novel frameshift mutation in the ILDR1 gene in a UAE family, mutations review and phenotype genotype correlation.

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Autosomal 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 HEATHER performed for an affected patient allowing us to identify a new frameshift mutation (c.804delG) in the Immunoglobulin-Like Domain containing Receptor-1 (ILDR1) gene.Direct Sanger sequencing and segregation analysis were performed for the family pedigree.

The mutation was homozygous in all affected siblings but heterozygous in the normal consanguineous parents.The present study reports a first ILDR1 gene mutation in the UAE population and confirms that the whole-exome sequencing approach is a robust tool for the diagnosis of monogenic diseases with high levels of allelic and locus heterogeneity.In addition, by reviewing all reported ILDR1 mutations, we attempt DisplayPort Cables to establish a genotype phenotype correlation to explain the phenotypic variability observed at low frequencies.