常染色体隐性遗传表皮松弛症患者的PYCR1基因纯合变异分析与生育咨询  

Diagnosis and fertility consultation in a patient with autosomal recessive cutis laxa due to PYCR1 gene mutation

作　　者：张艳[1] 林堃 曾丽娜[1] 林荔[1] 董娴[1] 陈煌辉 林力华[3] Zhang Yan;Lin Kun;Zeng Lina;Lin Li;Dong Xian;Chen Huanghui;Lin Lihua(Center of Prenatal Diagnosis,the Affiliated Hospital of Putian College,Putian 351100,China;General Surgery,Putian 95 Hospital of China Rong Tong Healthcare Group,Putian 351100,China;Gynaecology and Obstetrics,the Affiliated Hospital of Putian College,Putian 351100,China)

机构地区：[1]莆田学院附属医院产前诊断中心,莆田351100 [2]中国融通医疗健康集团莆田九十五医院普通外科,莆田351100 [3]莆田学院附属医院妇产科,莆田351100

出　　处：《国际遗传学杂志》2024年第1期40-45,共6页International Journal of Genetics

基　　金：福建省中青年教师教育科研项目(JAT200536)

摘　　要：目的对1例常染色体隐性遗传表皮松弛症患者的PYCR1基因进行变异分析,明确其遗传学病因。方法收集患者的外周静脉血进行染色体核型分析、单核苷酸多态性微阵列芯片(single nucleotide polymorphism array,SNP-array)分析及全外显子测序(whole exome sequencing,WES),并通过Sanger测序进行位点验证。结果患者的外周静脉血中检测到PYCR1基因的4号外显子存在1个来源未知的纯合变异c.345delC(p.R116Gfs*6),为移码突变,目前,国内尚未见报道。结论PYCR1基因的4号外显子c.345delC(p.R116Gfs*6)纯合变异为患者表皮松弛的病因,为其后续生育提供了遗传学依据。Objective To analyze the variations in the PYCR1 gene of a patient with autosomal recessive inherited cutis laxa.Methods Chromosome karyotyping analysis,SNP-array and WES were performed on blood samples.Candidate variants were verified by Sanger sequencing.Results A homozygous mutation c.345delC(p.R116Gfs*6)was identified in exon 4 of the PYCR1 gene through WES,which is a frame shift mutation.At present,no studies have reported it in China.Conclusion The homozygous mutation c.345delC(p.R116Gfs*6)variant in exon4 of the PYCR1 is pathogenic cause of cutis laxa.It provide genetic basis for future reproduction.

关 键 词：表皮松弛症 基因 全外显子检测 Sanger测序 

分 类 号：R758.59[医药卫生—皮肤病学与性病学]