伴有mtDNA14484位点突变的Leber病一大家系

A pedigree of Leber＇s hereditary optic neuropathy with mtDNA 14484 mutation

目的研究Leber病一大家系的遗传因素，探讨其外显率、遗传早现、自发视力恢复，以及与mtDNA的关联性。方法对家系中18例患者进行调查，并行视力、眼底等常规检查；5例患者作了视觉诱发电位（visual evoked potential，VEP）及视野检查；应用聚合酶链反应对6例患者外周血液进行mtDNA11778、3460及144843个位点检查。结果（1）本家系第1代娶二妻，前妻后代皆无明显诱因出现双眼视力下降，经眼底镜检查符合视神经萎缩诊断。后妻无眼病，其后代均无眼病。（2）6例患者的mtDNA检查显示11778、3460位点未发现突变，而在14484位点出现同质性突变。结论该家系Leber病呈典型母系遗传，该病的临床表现可能与mtDNA14484位点突变密切关联。

Objective To analyze a pedigree of Leber＇s hereditary optic neuropathy, and its penetrance, anticipation, and spontaneous eyesight improvement, and its relationship with mitochondrial DNA mutation. Methods Eighteen members in the family were undergone routine visual check. Five eases were taken visual evoked potential and visual field examination. DNA sequencing was performed on 6 eases to check the mtDNA11778, 3460 and 14484 loci. Results （ 1 ）The offsprings from the first wife in the first generation showed decreased acuity of the two eyes, which was optic＇ atrophy identified by funduscopy. （2） The mtDNA had mutation at position 14484, but not at positions 11778 and 3460. Conclusion The pedigree showed a typical maternal inheritance of Leber＇ s hereditary optic neuropathy. It was caused by mtDNA 14484 mutation.