Hertz J M, Nørgaard Hansen K, Juncker I, Kjeldsen M, Gregersen N
Department of Clinical Genetics, Aarhus University Hospital, Denmark.
Clin Genet. 1998 Mar;53(3):205-9. doi: 10.1111/j.1399-0004.1998.tb02678.x.
Hypohidrotic ectodermal dysplasia (EDA), or Christ-Siemens-Touraine syndrome, is clinically characterized by hypohidrosis, hypoodontia and hypotrichosis. The X-linked form of the disease has been mapped to Xq12-q13.1, and a gene from this region has recently been cloned. This gene encodes a predicted transmembrane protein of 135 amino acids, which was found to be expressed in keratinocytes, hair follicles, and sweat glands. A variety of rearrangements in this gene have been found in patients with hypohidrotic ectodermal dysplasia. We have screened the probands from nine unrelated Danish families with hypohidrotic ectodermal dysplasia for mutation in exon 1 of the EDA-gene by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP). In one large kindred we identified a novel missense mutation (402C-->T), which changes a histidine to tyrosine at position 54 in the protein. This mutation cosegregates with the disease in the family and is the first mutation described which affects the predicted transmembrane, hydrophobic domain of the protein.
少汗型外胚层发育不良（EDA），即克里斯 - 西门子 - 图赖讷综合征，临床特征为少汗、牙发育不全和毛发稀少。该疾病的X连锁形式已被定位到Xq12 - q13.1，并且最近已从该区域克隆出一个基因。该基因编码一种预测的由135个氨基酸组成的跨膜蛋白，发现其在角质形成细胞、毛囊和汗腺中表达。在少汗型外胚层发育不良患者中已发现该基因的多种重排。我们通过聚合酶链反应 - 单链构象多态性（PCR - SSCP）对来自9个不相关的丹麦少汗型外胚层发育不良家族的先证者进行了EDA基因第1外显子突变筛查。在一个大家系中，我们鉴定出一个新的错义突变（402C→T），该突变使蛋白质第54位的组氨酸变为酪氨酸。此突变在家族中与疾病共分离，是所描述的首个影响该蛋白质预测跨膜疏水结构域的突变。
