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[Mutation analysis in a family of Leber hereditary optic neuropathy]
Chong-yang She1, Hong Gu, Jun Xu
1Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Sciences Key Laboratory, Beijing 100730, China.
Objective:
To identify the disease-causing mutation in a family of Leber hereditary optic neuropathy (LHON).
Methods:
Clinical data and family information were collected. Peripheral venous blood was drawn from patients and family members who agreed to donate the blood samples. Genomic DNA was extracted from blood leukocytes. Three primary mitochondrial DNA (mtDNA) mutations, G3460A, G11778A, and T14484C were screened using a method of polymerase chain reaction (PCR) followed by direct sequencing.
Results:
This 3-generation family had 14 members. Seven family members were affected, including 5 female patients and 2 male patients. Pedigree analysis showed maternal inheritance. Mutation analysis in 4 affected and 3 unaffected family members showed G11778A mutation in all 4 affected and 2 of the 3 unaffected individuals.
Conclusions:
G11778A mutation in mtDNA is the disease-causing mutation in this family of LHON. For the mutation carriers, early intervention may prevent or delay the onset of the disease.
