一例鱼鳞病患儿PNPLA1基因的变异分析  

Analysis of PNPLA1 gene mutation in a child with ichthyosis

作　　者：李函[1] 乔立兴[1] Li Han;Qiao Lixing(Zhongda Hospital Affiliated to Southeast University,Nanjing,Jiangsu 210009,China)

机构地区：[1]东南大学附属中大医院新生儿科,南京210009

出　　处：《中华医学遗传学杂志》2020年第10期1136-1138,共3页Chinese Journal of Medical Genetics

基　　金：江苏省妇幼健康科研项目(F201863)。

摘　　要：目的对1例鱼鳞病患儿的PNPLA1基因进行变异分析,寻找其病因。方法通过高通量测序对患儿进行全基因组拷贝数变异(copy number variation,CNV)分析及医学全外显子基因检测,并行Sanger测序验证。结果未发现疾病相关CNV区域。高通量测序检测出患儿PNPLA1基因的c.100G>A(p.Ala34Thr)和c.56C>A(p.Ser19X)复合杂合变异;前者为已知致病变异,后者在HGMD数据库及Clinvar数据库均未见相关报告,ACMG指南将其初步判定为致病性变异。Sanger测序验证,患儿父亲携带c.56C>A(p.Ser19X)杂合变异,患儿母亲携带c.100G>A(p.Ala34Thr)杂合变异。结论PNPLA1基因c.100G>A和c.56C>A复合杂合变异可能是患儿的致病原因。Objective To explore the genetic basis for a child with ichthyosis.Methods High-throughput sequencing was carried out to detect genomic copy number variants(CNVs)and variant of the medical exome.Candidate variant was verified by Sanger sequencing.Results No disease-related CNV was identified in the patient.High-throughput sequencing revealed that the child has carried compound heterozygous variants of the PNPLA1 gene,including a previously known pathogenic c.100G>A(p.Ala34Thr)mutation and a novel c.56C>A(p.Ser19x)variant which was predicted to be a pathogenic according to the ACMG guidelines.Sanger sequencing confirmed both variants in the child.Her father and mother were found to be heterozygous carriers for the c.56C>A(p.Ser19x)and c.100G>A(p.Ala34Thr)variants,respectively.Conclusion The compound heterozygous c.100G>A and c.56C>A variants of the PNPLA1 gene probably underlay the ichthyosis in this child.

关 键 词：鱼鳞病 PNPLA1基因 复合杂合变异 

分 类 号：R758.52[医药卫生—皮肤病学与性病学] R440[医药卫生—临床医学]