A novel c.240_241insGG mutation in NDP gene in a family with Norrie disease.

ABSTRACT

BACKGROUND: Norrie disease (ND) is a rare, X-linked recessive disorder with the main characteristic of early childhood blindness. The aim of the present study was to identify the genetic cause of the disease and the phenotypic characteristics of the patients in an Iranian family with four affected males with ND. METHODS: Norrie disease pseudoglioma (NDP) gene was sequenced and clinical examination was performed on patients. RESULTS: A GG dinucleotide insertion in exon 3 (c.240_241insGG) of NDP was detected in all patients. The mutation caused a frameshift and an early stop codon (p.Phe81Glyfs*23). CONCLUSIONS: A novel mutation was found in the NDP gene in the affected males of the family. As the mutation was absent in the normal male members of the family, it should be the genetic cause of the disease.