Purpose: To determine the cause of Leber congenital amaurosis (LCA) in a consanguineous Emirati family.
Methods: 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).
Results: 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.
Conclusion: 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.