7例新生儿皮肤异常的临床特征及遗传分析

目的 分析新生儿期色素失禁症(IP)患儿的临床表型及遗传学特征。方法 回顾性分析2019年6月至2021年6月安徽省儿童医院7例IP的临床资料;利用gap-PCR及Sanger测序,对患儿IKBKG基因进行外显子缺失和点突变筛查,对结果阴性患儿续以外显子组测序(WES)检测。结果 7例中有5例经基因检测确诊为IKBKG变异导致的IP,其中p.Q120*和p.K277Nfs*4为未报导过的新变异。1例经WES检测考虑PLEC变异所致大疱性表皮松解症,1例因拒绝进一步WES检测结果诊断不明。结论 IKBKG基因靶向gap-PCR及Sanger测序是确诊IP的有效一线检测;新鉴定的2个致病性变异扩展了IKBKG致病性变异谱。

Clinical manifestations inseven neonatal patients with skin abnormalities and genetic analysis

Objective To analyze the clinical phenotype and genetic characteristics of seven children with neonatal pigment incontinence (IP). Methods Aretrospective analysis on the clinical data of the seven neonatal IP patients in Anhui Children''s Hospital from June 2019 to June 2021 was conducted. Analyses of Gap-PCR and Sanger sequencing were also used to screen the IKBKG gene for exon deletion and point mutations, and then Whole Exome Sequencing (WES) was tested on the children with negative results. Results Among the seven cases, five cases were diagnosed as IP caused by the IKBKG mutation through genetic testing. Among them, p.Q120* and p.K277Nfs*4 were new mutations that hadnot been reported before. One case was considered as an epidermolysis bullosa caused by PLEC mutation through WES testing, and the diagnosis of one case was unclear due to the refusal of further WES testing. Conclusions IKBKG gene-targeted gap-PCR and Sanger sequencing are effective first-line tests to diagnose IP and these two newly identifiable pathogenic variants expand the spectrum of IKBKG pathogenic variants.