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[患有复发性瓦登伯格-克莱因综合征的家族]

[Families with recurrent cases of Waardenburg-Klein syndrome].

作者信息

Bliumina M G, Moskovkina A G

出版信息

Genetika. 1985 Jun;21(6):1062-5.

PMID:4029612
Abstract

Deaf children with the type I Waardenburg--Klein syndrome were studied. Secondary cases were found in 14 unrelated and 1 incest families. In 10 families probands and all their affected relatives had the type I Waardenburg--Klein syndrome. In 4 families patients were discovered with both type I and type II syndromes. In an incest family the proband seemed to have the type III, while his mother and father (sibs) had type II and their grandmother the type I syndrome. These results contradict the hypothesis claiming the origin of different types of Waardenburg--Klein syndrome to be due to the action of different genes. It is proposed that types I and II, or all types of the syndrome are caused by a single dominant gene. Potential mechanisms for clinical polymorphism of Waardenburg--Klein syndrome are related to incomplete penetrance and varying expression of this gene.

摘要

对患有I型瓦尔登堡-克莱因综合征的失聪儿童进行了研究。在14个非亲属家庭和1个近亲结婚家庭中发现了二代病例。在10个家庭中,先证者及其所有患病亲属都患有I型瓦尔登堡-克莱因综合征。在4个家庭中,发现患者同时患有I型和II型综合征。在一个近亲结婚家庭中,先证者似乎患有III型综合征,而他的父母(亲兄妹)患有II型综合征,其祖母患有I型综合征。这些结果与认为不同类型的瓦尔登堡-克莱因综合征起源于不同基因作用的假说相矛盾。有人提出,I型和II型,或该综合征的所有类型都是由单个显性基因引起的。瓦尔登堡-克莱因综合征临床多态性的潜在机制与该基因的不完全外显率和可变表达有关。

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