Inheritance pattern of familial moyamoya disease: autosomal dominant mode and genomic imprinting
Inheritance pattern of familial moyamoya disease: autosomal dominant mode and genomic imprinting
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DOI：
10.1136/jnnp.2006.096040
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发表时间：
2006-09-01
影响因子：
11
通讯作者：
Koizumi, A.
中科院分区：
文献类型：
--
作者：
Mineharu, Y.;Takenaka, K.;Koizumi, A.
背景资料：虽然烟雾病（moyamoya disease，MMD）的病因尚未完全阐明，但家族性MMD（familial MMD，F-MMD）的遗传学分析具有相当大的潜力。目的：确定F-MMD的遗传方式和临床特征，以便对该病进行精确的遗传学分析。方法：对15个高度聚集性的日本家族进行遗传学分析。（52例患者; 38名女性和14名男性）与三个或更多的受影响的成员进行了检查。采用x2统计方法比较父源传播和母源传播在发病年龄类别（儿童发病、成人发病和无症状）上的差异。结果：所有家庭都有三代或三代以上无血缘关系，并且观察到包括父子传播在内的所有传播类型。在135名受影响者的后代中，59名（43.7%）是MMD患者或强制性携带者。患F-MMD的母亲生育晚发型（成年发病或无症状）女性后代的可能性更大（p = 0.007）。结论：F-MMD的遗传方式为常染色体显性遗传，不完全显性。因此，在未来的遗传研究F-MMD，参数连锁分析，使用大家庭的常染色体显性遗传模式的建议。基因组印记可能与疾病有关。
Background: Although the aetiology of moyamoya disease (MMD) has not been fully clarified, genetic analysis of familial MMD (F-MMD) has considerable potential to disclose it.Objective: To determine the inheritance pattern and clinical characteristics of F-MMD to enable precise genetic analyses of the disease.Methods: 15 highly aggregated Japanese families ( 52 patients; 38 women and 14 men) with three or more affected members were examined. The difference in categories of age at onset ( child onset, adult onset and asymptomatic) between paternal and maternal transmission was compared by x 2 statistics.Results: In all families there had been three or more generations without consanguinity, and all types of transmission, including father-to-son, were observed. Among a total of 135 offspring of affected people, 59 (43.7%) were patients with MMD or obligatory carriers. Affected mothers were more likely to produce late-onset ( adult-onset or asymptomatic) female offspring ( p = 0.007).Conclusions: The mode of inheritance of F-MMD is autosomal dominant with incomplete penetrance. Thus, in future genetic studies on F-MMD, parametric linkage analyses using large families with an autosomal dominant mode of inheritance are recommended. Genomic imprinting may be associated with the disease.