一例ALOXE3基因复合杂合突变所致先天性鱼鳞病的临床及遗传学分析

Clinical and genetic analysis of congenital ichthyosis caused by compound heterozygous mutation of ALOXE3 gene

目的研究1例常染色体隐性遗传先天性鱼鳞病(ARCI)新生儿的临床表型及遗传学特征。方法回顾分析1例先天性鱼鳞病患儿的临床资料及基因检测结果。结果患儿生后表现为全身皮肤潮红,伴有白色细鳞屑。全外显子组测序结果显示患者携带ALOXE3基因母源性突变c.2068A>G。WES CNV预测分析患儿可能携带了一段位于基因组17q13.1约17.4 kb片段的杂合缺失变异,包括已被OMIM数据库中明确记录的ALOXE3、ALOX12B 2个已知致病基因。结论ALOXE3基因c.2068A>G的错义突变与17q13.1处约17.4kb片段的杂合缺失变异,可能为该患儿的致病原因,上述变异均未见文献报道。本研究进一步丰富了先天性红皮病样鱼鳞病的临床表型谱及遗传突变谱,为该病的诊断和遗传咨询提供了分子标记物。

Objective To study the clinical phenotype and genetic characteristics of a newborn with autosomal recessive congenital ichthyosis(ARCI).Methods Retrospective analysis of the clinical data and genetic test results of a child with congenital ichthyosis.Results The patient,after the birth,had Erythroderma of the whole body and white scale.WES revealed that the patient carried maternal mutation c.2068A>G of ALOXE3 gene.WES CNV prediction analysis showed that the child may carry a heterozygous deletion variant located at a segment of 17q13.1 about 17.4 kb,including two known pathogenic genes ALOXE3 and ALOX12B that have been clearly recorded in the OMIM database.Conclusion The missense mutation of c.2068A>G in ALOXE3 gene and the heterozygous deletion of 17q13.1 fragment about 17.4 kb probably underlay the ARCI in this patient.This study further enriched the clinical phenotype spectrum and genetic mutation spectrum of congenital erythroderm-like ichthyosis,based on which genetic counseling and prenatal diagnosis may be provided.