新疆地区毛囊角化病一汉族家系分析

A study of Chinese pedigree with Darier's disease in Xinjiang

目的总结并分析新疆地区毛囊角化病(Darier’s disease,DD)一汉族家系的临床特点、遗传方式及致病基因ATP2A2的13个外显子突变情况,了解新疆地区毛囊角化病的遗传学特点及临床特点。方法①对毛囊角化病家系的先证者进行详细的问诊、体格检查及病理检查,对家系中其他患病成员的临床资料进行收集,总结分析其临床特点。②采用国际通用的格式符号绘制家系图谱,分析其家系遗传方式。③采用基因组DNA提取、PCR特异扩增、ATP2A2产物直接测序等分子生物学方法对毛囊角化病致病基因ATP2A2的13个外显子进行突变检测。结果①毛囊角化病临床表现以皮脂溢出部位的角化性、脂溢性丘疹为主,无患者伴口腔黏膜损害及神经精神症状,家系中1例患者口服阿维A治疗后好转。②遗传方式属于常染色体显性遗传。③新疆地区毛囊角化病汉族家系致病基因ATP2A2的13个外显子无突变。结论①新疆毛囊角化病家系的临床特征符合典型的脂溢性毛囊角化病,同一家系中不同患者病情轻重不一,阿维A可能是治疗毛囊角化病的有效药物。②遗传方式符合常染色体显性遗传规律。③新疆地区毛囊角化病汉族家系致病基因ATP2A2的13个外显子无突变,与国内外报道不一致。

Objective To summarize and analyze the clinical features, mode of inheritance and ATP2A2 gene mutation in a Chinese pedigree with keratosis follicularis （Darier＇ s disease, DD） in Xinjing. Methods The proband was examined by detailed inquiry, physi- cal and pathological examination, and the clinical data of other involved family members were collected and analyzed. The pedigree trees were drawn and the mode of inheritance was analyzed. Mutations in 13 exons of ATP2A2 gene were detected through RT-PCR and DNA sequencing. Results The main clinical manifestation was keratosic or seborrheic papules in keratosic areas. In this pedigree, no patients had oral mueosal lesions or neuropsychiatric symptoms, and one case improved by oral acitreein. The mode of inheritance was autosomal dominant. The mutation of 13 exons in gene ATP2A2 had not been observed. Conclusion The severity of symptoms was different in this pedigree. Acitretin was effective in the treatment of Dafter disease inheritance. Unlike the results of domestic or international reports this pedigree. The mode of inheritance followed the pattern of autosomal dominant the mutation in 13 exons of ATP2A2 gene had not been observed in