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Background  Retinitis pigmentosa is the most important hereditary retinal degenerative disease, which has a high degree of clinical and genetic heterogeneity. More than half of all cases of retinitis pigmentosa are autosomal recessive (arRP), but the gene(s) causing arRP in most families has yet to be identified. The purpose of this study is to identify the genetic basis of severe arRP in a consanguineous Chinese family.    Methods  Linkage and haplotype analyses were used to define the chromosomal location of the pathogenic gene in the Chinese arRP family. Direct DNA sequence analysis of the entire coding region and exon-intron boundaries of  EYS  was used to determine the disease-causing mutation, and to demonstrate that the mutation co-segregates with the disease in the family.    Results  A single nucleotide substitution of G to T at nucleotide 5506 of EYS was identified in the Chinese arRP family. This change caused a substitution of a glutamic acid residue at codon 1,836 by a stop codon TAA (p.E1836X), and resulted in a premature truncated EYS protein with 1,835 amino acids. Three affected siblings in the family were homozygous for the p.E1836X mutation, while the other unaffected family members carried one mutant allele and one normal EYS allele. The nonsense mutation p.E1836X was not detected in 200 unrelated normal controls.    Conclusions  The  EYS  gene is a recently identified disease-causing gene for retinitis pigmentosa, and encodes the orthologue of  Drosophila  spacemaker. To date, there are only eight mutations in  EYS  that have been identified to cause arRP. Here we report one novel homozygous nonsense mutation of  EYS  in a consanguineous Chinese arRP family. Our study represents the first independent confirmation that mutations in  EYS  cause arRP. Additionally, this is the first  EYS  mutation identified in the Chinese population.

Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa