Identification of a novel LCA6 mutation in an Emirati family

To determine the cause of Leber congenital amaurosis (LCA) in a consanguineous Emirati family.

The clinical diagnosis was made on the basis of medical history, ophthalmoscopy and standard ERG. The diagnosis was confirmed by molecular genetic analysis of known LCA genes by Next-Generation Sequencing (NGS). The latter was performed by Bioscientia Institut, Germany (as a clinical service for Latifa Hospital, Dubai).

The next generation sequencing of known LCA genes revealed a homozygous 1bp-insertion c.2608_2609insA in exon 16 of the RPGRIP1 gene. This mutation, which was confirmed by conventional Sanger sequencing, leads to a frameshift, resulting in a premature stop codon (p.Leu870TyrfsX7) and subsequently in a degradation of the m-RNA or in a truncation of the RPGRIP1 protein. The segregation analysis of the identified mutation was performed for the parental samples. Both parents carry the frameshift mutation in a heterozygous state.

We report a novel RPGRIP1 mutation causing LCA in a consanguineous Emirati family. To the best of our knowledge, this alteration has not been described in the literature so far.