一例丑角样鱼鳞病胎儿的遗传学分析及产前诊断

Genetic analysis and prenatal diagnosis of a fetus with harlequin ichthyosis

目的对1例疑似为丑角样鱼鳞病的胎儿及其亲代进行基因变异检测.方法应用全外显子组测序技术对胎儿进行致病变异筛查,结合超声、病理学检查以及临床表型资料,确定候选致病变异位点,应用Sanger测序对其进行验证,同时对亲代进行变异位点检测.结果发现胎儿携带ABCA12基因c.6858delT(p.F2286fs)纯合缺失变异,胎儿父母均为杂合子.病理学诊断提示胎儿患有先天性鱼鳞样皮肤病(板层状鱼鳞病).结论ABCA12基因c.6858delT纯合缺失可能是胎儿发病的原因.

Objective To carry out variant analysis for a fetus suspected with harlequin ichthyosis(HI).Methods Whole exome sequencing(WES)was employed to detect potential variant in the fetus.Suspected variant was validated by Sanger sequencing.Results A homozygous missense variant c.6858delT(p.F2286fs)was detected in the fetus,for which both parents were heterozygous carriers.Pathological analysis confirmed the diagnosis of HI.Conclusion The c.6858delT variant of the ABCA12 gene probably underlies the disease in the fetus.