Galada Chelna, Shah Hitesh, Shukla Anju, Girisha Katta M
Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
Department of Orthopaedics, Kasturba Medical College, Manipal University, Manipal, India.
J Hum Genet. 2017 Apr;62(5):575-576. doi: 10.1038/jhg.2016.166. Epub 2017 Jan 19.
Pyle disease (PYL) is an extremely rare disorder of irregular development of long bone. Recently, homozygous mutations in secreted frizzled-related protein 4 gene (SFRP4) gene were found to underlie this condition. Sequencing of coding regions of SFRP4 gene from an 11-year-old female with PYL was performed. A novel homozygous nonsense variant, c.183C>G (p.Y61*) was observed. Segregation analysis in the patient revealed a germline mutation, resulting in reduced protein formation. This is the second report from a fourth affected family with a SFRP4 mutation causing PYL disease.
派尔病（PYL）是一种极为罕见的长骨发育异常疾病。最近发现，分泌型卷曲相关蛋白4基因（SFRP4）的纯合突变是导致该病的原因。对一名患有派尔病的11岁女性的SFRP4基因编码区进行了测序。发现了一个新的纯合无义变异，即c.183C>G（p.Y61*）。对该患者的分离分析显示存在种系突变，导致蛋白质形成减少。这是第四个有SFRP4突变导致派尔病的患病家族的第二篇报道。
