A novel Norrie disease pseudoglioma gene mutation, c.-1_2delAAT, responsible for Norrie disease in a Chinese family.

ABSTRACT:

Aim

To investigate the genetic findings and phenotypic characteristics of a Chinese family with Norrie disease (ND).

Methods

Molecular genetic analysis and clinical examinations were performed on a Chinese family with ND. Mutations in the Norrie disease pseudoglioma (NDP) gene were detected by direct sequencing. Haplotypes were constructed and compared with the phenotypes in the family. Evolutionary comparisons and mutant open reading frame (ORF) prediction were also undertaken.

Results

Two family members with ocular manifestations were diagnosed with ND. No signs of sensorineural hearing loss were observed in either patient, while one of them showed signs of mild mental retardation. A novel heterozygous mutation in the NDP gene, c.-1_2delAAT, was detected in both pat

SUBMITTER: Zhang XY 

PROVIDER: S-EPMC3874509 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature