Pozo-Molina Glustein, Reyes-Reali Julia, Mendoza-Ramos María Isabel, Villalobos-Molina Rafael, Garrido-Guerrero Efraín, Méndez-Cruz Adolfo René
Laboratorio de Inmunología, Facultad de Estudios Superiores Iztacala, Universidad Nacional Autónoma de México, Mexico City, Mexico.
Laboratorio de Investigación en Biología Molecular y Celular del Cáncer, Departamento de Genética y Biología Molecular, Centro de Investigación y de Estudios Avanzados del Instituto Politécnico Nacional, Mexico City, Mexico.
Int J Dermatol. 2015 Jul;54(7):790-4. doi: 10.1111/ijd.12775. Epub 2015 Jan 27.
Hypohidrotic ectodermal dysplasia (HED) is a human genetic disorder that affects structures of ectodermal origin such as hair, teeth, and sweat glands. Although there are autosomal recessive and dominant forms, X-linked (XL) is the most frequent form of the disease. This XL-HED phenotype is associated with mutations in the gene encoding the transmembrane protein ectodysplasin-1 (EDA1). We report the clinical and molecular analysis of a novel mutation in exon 1 affecting the transmembrane domain of the protein.
We have screened 20 members of a family from Yucatán, México, nine men and 11 women, searching clinical and histopathological signs of HED. We searched mutations in EDA1 gene from patients with XL-HED, carriers, and controls.
We identified seven men with clinical characteristics of HED showing short toes and plantar hyperkeratosis not reported previously in patients with HED. A mutational study of the EDA1 gene showed that all seven patients with HED carry a novel missense mutation of the nucleotide 409 (c.409T>C) in exon 1, which changes p.Leu56-Pro in the protein amino acid sequence; five women are heterozygous compatible with carrier status.
We found a novel missense mutation in exon 1 of the EDA1 gene in a putative Mayan family from México with XL-HED. We identified in this population some novel clinical signs of HED.
少汗性外胚层发育不良（HED）是一种人类遗传疾病，会影响外胚层起源的结构，如毛发、牙齿和汗腺。虽然存在常染色体隐性和显性形式，但X连锁（XL）是该疾病最常见的形式。这种XL-HED表型与编码跨膜蛋白外胚层发育不良蛋白-1（EDA1）的基因突变有关。我们报告了一个影响该蛋白跨膜结构域的外显子1新突变的临床和分子分析。
我们对来自墨西哥尤卡坦半岛的一个家族的20名成员进行了筛查，其中9名男性和11名女性，寻找HED的临床和组织病理学体征。我们在XL-HED患者、携带者和对照者中寻找EDA1基因的突变。
我们鉴定出7名具有HED临床特征的男性，他们表现出短趾和足底角化过度，这是之前HED患者中未报道过的。对EDA1基因的突变研究表明，所有7名HED患者在外显子1中携带一个新的核苷酸409错义突变（c.409T>C），该突变导致蛋白质氨基酸序列中的p.Leu56-Pro改变；5名女性为杂合子，符合携带者状态。
我们在一个来自墨西哥的疑似玛雅家族中发现了EDA1基因外显子1的一个新的错义突变，该家族患有XL-HED。我们在该人群中发现了一些HED的新临床体征。
