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

• 作者: Lu-Ming Chen Su-Qin Chen Wei-Ying Jiang Xin-Yu Zhang
• 来源期刊: 国际眼科杂志：英文版
• 学科: 医学
• 关键词: Norrie DISEASE pseudoglioma MUTATION CHINESE
• 年，卷（期）: 2013,（6）
• 页码范围: 739-743
• 页数: 5页
• 分类号: R771

摘要

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.-1₂delAAT,was detected in both patients.The mutation and the mutation bearing hapiotype cosegregated with the ND phenotype in males and was transmitted from their mothers and/or grandmothers（Ⅱ:2）.The male without ND did not harbor the mutation.The mutation occurred at the highly conserved nucleotides.DRF finder predicted that the mutation would lead to the production of a truncated protein that lacks the first 11N-terminal amino acids.CONCLUSION:A novel mutation,c.-1₂delAAT in the NDP gene,was identified in a Chinese family with ND.This mutation caused ND without obvious sensorineural hearing loss.Mental disorder was found in one but not the other patients.The clinical heterogeneity in the family indicated that other genetic variants and epigenetic factors may also play a role in the disease presentation.