摘要目的:探究1例少毛症14型患儿的临床表型与遗传学特征。方法:选取2020年5月4日因"头发稀疏"就诊于河南省人民医院皮肤科的1例患儿作为研究对象，回顾性分析其临床资料。采集患儿及其父母的外周血样，提取基因组DNA，通过全外显子组测序筛选潜在的致病变异，并对其进行Sanger测序验证和生物信息学分析。结果:患儿为5岁女性，头发稀疏细软，呈胎毛状，容易脱落。基因测序结果提示其 LSS基因存在父源c.1609G>A(p.V537M)和母源c.802T>G(p.F268V)复合杂合变异，二者所对应的氨基酸序列在进化上高度保守。但根据美国医学遗传学与基因组学学会(ACMG)相关指南，二者均被均评级为意义不明(PM2_Supporting＋PP3＋PP4)。 结论:LSS基因c.1609G>A(p.V537M)和c.802T>G(p.F268V)杂合变异可能是患儿存在头发稀疏细软的遗传学病因。

abstractsObjective:To explore the clinical phenotype and genetic characteristics of a child with Hypotrichosis 14.Methods:A child who had presented at the Henan Provincial People′s Hospital on May 4, 2020 due to hair thinning was selected as the study subject. Clinical data of the child was collected. Peripheral venous blood samples were collected from the child and her parents. Genomic DNA was extracted and subjected to whole exome sequencing. Candidate variants were validated by Sanger sequencing and bioinformatic analysis.Results:The child, a 5-year-old female, had presented with thin, soft lanugo-like hair which was easy to fall off. The child was found to harbor compound heterozygous missense variants of the LSS gene, namely c. 1609G>A (p.V537M) in exon 17 and c. 802T>G (p.F268V) in exon 8, which were respectively inherited from her father and mother. Both variant sites were highly conserved, though based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were rated as variants of unknown significance (PM2_Supporting+ PP3+ PP4). Conclusion:The c. 1609G>A (p.V537M) and c. 802T>G (p.F268V) compound heterozygous variants of the LSS gene probably underlay the clinical phenotype in this patient.