Department of Dermatology, Columbia University, New York, N.Y., USA.
Dermatology. 2010;221(3):243-7. doi: 10.1159/000314329.
X-linked recessive hypohidrotic ectodermal dysplasia (XLHED; OMIM 305100) is a rare genodermatosis characterized clinically by developmental abnormalities affecting the teeth, hair and sweat glands. Mutations in the EDA-A1 gene have been associated with XLHED. Recently, mutations in the EDA-A1 gene have also been implicated in isolated X-linked recessive hypodontia (XLRH; OMIM 313500).
We analyzed the DNA from members of 3 unrelated Pakistani families with XLRH for mutations in the EDA-A1 gene through direct sequencing and performed haplotype analysis.
We identified a common missense mutation in both families designated c.1091T→C (p.M364T). Haplotype analysis revealed that this is a founder mutation in the 3 families.
XLHED is a syndrome with variable clinical presentations that contain a spectrum of findings, including hypodontia. We suggest that XLRH should be grouped under XLHED as both share several phenotypic and genotypic similarities.
X 连锁隐性汗孔发育不良（XLHED；OMIM 305100）是一种罕见的遗传性皮肤病，临床上表现为牙齿、毛发和汗腺发育异常。EDA-A1 基因突变与 XLHED 相关。最近，EDA-A1 基因突变也与孤立性 X 连锁隐性少牙症（XLRH；OMIM 313500）有关。
我们通过直接测序分析了来自 3 个无亲缘关系的巴基斯坦家庭的 XLRH 患者的 EDA-A1 基因突变，并进行了单倍型分析。
我们在两个家系中均发现了一种常见的错义突变，c.1091T→C（p.M364T）。单倍型分析显示，这是 3 个家系的一个共同的突变。
XLHED 是一种临床表现多样的综合征，包括少牙症。我们建议将 XLRH 归入 XLHED 中，因为它们具有许多表型和基因型相似之处。
