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目的通过一个家系分析,探讨先天性外胚层发育不全疾病的遗传方式。方法现场对一个无汗先天性外胚层发育不全家系四代27例家庭成员进行调查,并对1例患者进行医学分析。结果患者主要表现为头发稀疏,无牙,无体毛,无汗等症状。家系遗传分析表明该疾病属于X连锁隐性遗传疾病。结论本病发病机制与X染色体上的基因缺陷有关,如ED1、NEMO等,据此可开展进一步基因突变检测。
Objective To investigate the inheritance of congenital ectodermal dysplasia through a pedigree analysis. METHODS: A total of 27 family members from four generations of an ankle-deficient congenital dysplasia family were surveyed in the field and a case of one patient was analyzed. Results The patients showed mainly sparse hair, no teeth, no body hair, no sweat and other symptoms. Pedigree genetic analysis showed that the disease belongs to X-linked recessive genetic disease. Conclusion The pathogenesis of this disease is related to the gene defect of X chromosome, such as ED1, NEMO, etc. Therefore, further gene mutation detection can be carried out.