关键词: 皮肤松弛；　PYCR1基因；　高通量测序技术

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.

Key words: 　cutis laxa;　PYCR1 gene;　high-throughput sequencing