SGMS2基因突变致颅骨环形病变伴骨质疏松性骨折一例报告

Calvarial doughnut lesions with osteoporotic fracture caused by SGMS2 gene mutation:a case report

SGMS2的致病性杂合突变会导致一种罕见的单基因骨质疏松症,称为颅骨环形病变伴骨脆性增加(calvarial doughnut lesions with bone fragility,CDL),伴或不伴有脊椎干骺端发育不良。SGMS2编码的鞘磷脂合酶2(sphingomyelin synthase 2,SMS2)参与鞘磷脂(sphingomyelin,SM)产生,SGMS2突变导致骨骼发育异常,提示SM代谢可能在骨代谢中发挥重要的作用。本文报告1例颅骨环形病变伴骨质疏松性骨折患者,使用全外显子组序检测发现其存在SGMS2基因c.148C>T(p.Arg50*)杂合突变。

The pathogenic heterozygous variant of SGMS2 leads to a rare monogenic osteoporosis,called calvarial doughnut lesions with bone fragility,with or without spondylometaphyseal dysplasia.Sphingomyelin synthase 2(SMS2)encoded by SGMS2 is involved in the production of sphingomyelin(SM),and the mutation of SGMS2 leads to skeletal dysplasia,suggesting that SM metabolism may play an important role in bone metabolism.This report describes a case of calvarial doughnut lesions with osteoporotic fracture,in which a heterozygous c.148C>T(p.Arg50*)mutation in the SGMS2 gene was found by whole-exome sequencing.