Nakagawa M, Matsuzaki T, Higuchi I, Fukunaga H, Inui T, Nagamitsu S, Yamada H, Arimura K, Osame M
Third Department of Internal Medicine, Kagoshima University School of Medicine.
Intern Med. 1997 May;36(5):333-9. doi: 10.2169/internalmedicine.36.333.
We studied 71 Japanese individuals, 42 patients (30 familial and 12 sporadic) suspected to have facioscapulohumeral muscular dystrophy (FSHD) and 29 family members, clinically and genetically using the chromosome 4qter DNA marker p13E-11. Early onset FSHD was detected in 7 patients, tortuosity of retinal arterioles and hearing impairment in 3 patients, progressive respiratory failure in 3 patients and limb-girdle type muscular weakness in 6 patients. Thirty-six (85.7%) FSHD patients, 3 asymptomatic family members and 1 of 35 healthy volunteers showed EcoRI digestion fragments shorter than 28kb. New mutations were detected in 25% of the patients with shorter EcoRI fragment. The age of disease onset appeared younger with successive generations in 6 parent-child pairs in FSHD families. We confirmed the existence of phenotypic and genetic diversities in Japanese patients with FSHD. It is still difficult to explain the phenotypic diversity merely by the size of the abnormal EcoRI fragment detected with the p13E-11 probe.
我们使用染色体4qter DNA标记p13E - 11，对71名日本人进行了临床和遗传学研究，其中包括42名疑似患有面肩肱型肌营养不良症（FSHD）的患者（30名家族性患者和12名散发性患者）以及29名家庭成员。在7名患者中检测到早发性FSHD，3名患者出现视网膜小动脉迂曲和听力障碍，3名患者出现进行性呼吸衰竭，6名患者出现肢带型肌无力。36名（85.7%）FSHD患者、3名无症状家庭成员以及35名健康志愿者中的1人显示EcoRI消化片段短于28kb。在EcoRI片段较短的患者中，25%检测到新突变。在FSHD家族的6对亲子中，发病年龄在连续几代中似乎更年轻。我们证实了日本FSHD患者存在表型和遗传多样性。仅通过用p13E - 11探针检测到的异常EcoRI片段大小，仍然难以解释表型多样性。
