A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E
A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E
复制标题
DOI：
10.1016/j.ejmg.2007.09.005
复制
发表时间：
2008-01-01
影响因子：
1.9
通讯作者：
Hadj-Rabia, Smail
中科院分区：
文献类型：
--
作者：
Jonard, Laurence;Feldmann, Delphine;Hadj-Rabia, Smail
角膜炎-鱼鳞病-耳聋（KID）综合征（OMIM 148210）是一种先天性外胚层缺陷。KID是一种与先天性感音神经性耳聋相关的非典型鱼鳞状红皮病。由于严重的皮肤损伤感染和败血症，一种罕见的KID综合征在生命的第一年是致命的。KID似乎具有遗传异质性，可能由连接蛋白26或连接蛋白30基因突变引起。连接蛋白26基因的GJB2突变是该病的主要原因。大多数由GJB2突变引起的病例是散发的，但也描述了显性传播。迄今为止，这种罕见的致死性疾病仅在两名GJB2突变的高加索散发性患者中观察到，p.Gly45Glu （G45E）是从头产生的。我们报告了一个非洲家庭的异卵双胞胎患有致命形式的KID。微卫星标记证实了这对双胞胎的异卵性。两例患者GJB2基因的G45E突变是杂合的，而父母双方均未检测到该突变。在这个家庭中观察到的这种疾病的不寻常的传播可以解释为父母中的一方发生了体细胞或更可能是生发的马赛克。(c) 2007年Elsevier Masson SAS。版权所有。
Keratitis-Ichthyosis-Deafness (KID) syndrome (OMIM 148210) is a congenital ectodermal defect. KID consists of an atypical ichthyosiform erythroderma associated with congenital sensorineural deafness. A rare form of the KID syndrome is a fatal course in the first year of life due to severe skin lesion infections and septicaemia. KID appears to be genetically heterogeneous and may be caused by mutations in connexin 26 or connexin 30 genes. GJB2 mutations in the connexin 26 gene are the main cause of the disease. Most of the cases caused by GJB2 mutations are sporadic, but dominant transmission has also been described. To date, the rare lethal form of the disease has been only observed in two Caucasian sporadic patients with the GJB2 mutation, with the p.Gly45Glu (G45E) arising de novo. We have reported an African family with dizygotic twins suffering from a lethal form of KID. The dizygosity of the twins was confirmed by microsatellite markers. The two patients were heterozygous for the G45E mutation of GJB2, whereas the mutation was not detected in the two parents. The unusual transmission of the disease observed in this family could be explained by the occurrence of a somatic or more probably a germinal mosaic in one of the parents. (c) 2007 Elsevier Masson SAS. All rights reserved.