RESUMO
A Chinese family affected with autosomal dominant disorder-neurofibromatosis type I was identified in this study. Linkage analysis was performed, and DNA sequencing for whole coding region of NF1 was carried out to identify the disease-causing mutation. The disease gene of the Chinese NF1 family was linked to NF1 locus, and a nonsense mutation, G1336X in the NF1 gene was identified. This mutation truncates the NF1 protein by 1 483 amino acid residues at the C-terminus, and is co-segregate with all the patients, but not present in unaffected individuals in the family. The present study demonstrated that G1336X mutation in the NF1 gene cause Neurofibromatosis type I in the family. To our knowledge, this mutation is firstly reported in Chinese population.
Assuntos
Códon sem Sentido/genética , Neurofibromatose 1/genética , Neurofibromina 1/genética , Povo Asiático , Criança , Feminino , Ligação Genética/genética , Humanos , Masculino , Linhagem , Reação em Cadeia da PolimeraseRESUMO
OBJECTIVE: To describe the clinical and genetic characteristics of a Chinese family affected with optic atrophy 1 (OPA1). METHODS: Linkage analysis and DNA sequencing as well as PCR/restriction fragment length polymorphism (RFLP) analysis were performed to identify the disease-causing mutation. RESULTS: A missense mutation, G401D in the OPA1 gene was identified, and the patients demonstrate inherited syndrome of optic atrophy and hearing loss. CONCLUSION: The present study demonstrates that a mutation in the OPA1 gene can cause optic atrophy in Chinese patients, and supports the notion that OPA1 mutation may lead to OPA1 combined with hearing loss.
