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

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.

Cite this article

陆静,胥雨菲,韩聪,等 . Cutis laxa caused by PYCR1 gene mutation: a case report[J]. Journal of Clinical Pediatrics, 2019 , 37(4) : 265 . DOI: 10.3969/j.issn.1000-3606.2019.04.006

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