免疫性疾病专栏

PYCR1 基因突变致皮肤松弛症1 例报告

  • LU Jing ,
  • XU Yufei ,
  • HAN Cong ,
  • et al
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  • 上海交通大学医学院附属上海儿童医学中心医学遗传科分子诊断实验室(上海 200127)

网络出版日期: 2019-04-18

Cutis laxa caused by PYCR1 gene mutation: a case report

  • 陆静,胥雨菲,韩聪,等
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  • Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children’s Medical Center Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China

Online published: 2019-04-18

摘要

 目的 分析临床罕见的PYCR1基因变异导致的常染色体隐性皮肤松弛症的临床特征及遗传学特点。方法 回 顾1例皮肤松弛症患儿的临床资料及基因分析结果,并复习相关文献。结果 4岁女性患儿,身材矮小,消瘦,关节松弛易 脱位,牙齿不整,特殊面容,临床诊断为皮肤松弛症。高通量测序发现PYCR1基因存在错义变异c.743G>A,p.Gly248Glu(纯 合),Sanger测序验证患儿父亲与母亲均携带该杂合位点。结论 患儿确诊为PYCR1基因变异引起的皮肤松弛症。

本文引用格式

LU Jing , XU Yufei , HAN Cong , et al . PYCR1 基因突变致皮肤松弛症1 例报告[J]. 临床儿科杂志, 2019 , 37(4) : 265 . DOI: 10.3969/j.issn.1000-3606.2019.04.006

Abstract

Objective To analyze the clinical and genetic characteristics of autosomal recessive cutis laxa caused by a rare mutation of PYCR1 gene. Method The clinical data and genetic analysis results of cutis laxa in a child were analyzed, and the related literature was reviewed. Results A 4-year-old girl with short stature, emaciation, loose and dislocated joints, irregular teeth and special facial features was clinically diagnosed of cutis laxa. High-throughput sequencing revealed that the PYCR1 gene had a missense mutation c.743G>A, p.Gly248Glu (homozygous). Sanger sequencing confirmed that both her father and mother carried the heterozygous mutation. Conclusion The patient was diagnosed with cutis laxa caused by PYCR1 gene mutation.
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