鱼鳞病综合征的遗传学进展

鱼鳞病综合征是一组皮肤症状表现为鱼鳞病样损害的遗传性疾病,大部分由于基因突变引起。近年来国内外研究较多,并取得了不少进展。大部分研究主要集中在发病机制及基因上,如现已对KID综合征、CHILD综合征和NLS等的基因突变点进行了研究,其中大部分由单基因突变所致。

Genetics Research in Ichthyosis Syndrome

Ichthyosis syndrome is a series of genodermatoses clinically manifested by ichthyosiform lesions. Most of them are caused by gene mutations. Recently, a number of researches have been performed about these diseases and have made many progresses. The researches mainly focus on the genetics and pathogenesis of these diseases. For example, they have explored the mutation sites in KID, CHILD syndrome and NLS, etc, and it is implicated that most of those syndromes are due to single gene mutation.