新生儿色素失调症1例临床特征及基因分析

Clinical characteristics and genetic analysis in one case of neonatal incontinentia pigmenti

目的 探讨色素失调症(IP)新生儿的临床特征及基因缺失突变。方法 回顾性分析1例IP患儿的临床表现,采用二代测序技术(NGS)检测受检者临床表型的致病/可能致病性变异。结果 患儿有典型的皮肤损害,受检者核因子κB激酶(IKBKG)基因的第4~10号外显子(IKBKG△4~10)存在约5.930 kb大小的拷贝数缺失变异。结论 色素失调症是一种罕见的X染色体连锁的显性遗传病,具有典型的临床表现,IKBKG基因缺失突变。

Objective To explore the clinical manifestations and the deletion mutation in IKBKG gene in neonatal incontinentia pigmenti.Methods The clinical manifestations of one neonatal infant were analyzed,clinical features and gene analysis of a case of neonatal pigment incontinence detection of pathogenic/possible pathogenic variation of clinical pheno-type by new generation high-throughput sequencing(NGS).Results The clinical manifestations were typical skin lesions.There was a copy number deletion mutation of about 5.930 kbp in exon 4 to exon 10 of IKBKG gene.Conclusions Inconti-nentia pigmenti is a rare X chromosome linked dominant genetic disease.It has typical clinical manifestations with deletion mutation in IKBKG gene.