Novel Pathogenic Variant in the Cys110 Residue: A Genotype-Phenotype Report of a Patient with Norrie Disease.

ABSTRACT

Norrie disease is an X-linked genetic disorder caused by pathogenic mutations in the NDP . Here, we describe the clinical phenotype and genotype in a 19-week-old male infant with bilateral retinal detachment. Whole exome sequencing using available commercial methods on the proband revealed a hemizygous substitution in exon 3 of NDP , which suggests the etiology behind retinal detachment. This report not only adds to the expanding mutational spectrum of NDP -related retinopathies but also highlights the recurrence of pathogenic variants in the Cys110 residue, adding additional evidence to this residue as a potential mutational hot spot.