A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2

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• 作者：Laurence Jonard ; Delphine Feldmann ; Christophe Parsy ; Sylvie Freitag ; Martine Sinico ; Cé ; leste Koval ; Mhamed Grati ; Remy Couderc ; Franç ; oise Denoyelle ; Christine Bodemer ; S ; rine Marlin ; Smail Hadj-Rabia
• 关键词：Keratitis-Ichthyosis-Deafness syndrome ; KID syndrome ; Connexin 26 ; GJB2 ; G45E ; Mosaicism
• 刊名：European Journal of Medical Genetics
• 出版年：2008
• 出版时间：January-February 2008
• 年：2008
• 卷：51
• 期：1
• 页码：35-43
• 全文大小：493 K

文摘

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.