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。

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.