DYNC2H1基因纯合突变致短肋-胸廓发育不良3型一例

Short Rib-Thoracic Dysplasia Syndrome TypeⅢCaused by Homozygous Mutation in DYNC2H1:A Case Report

本文对1例短肋-胸廓发育不良3型(SRTD3)进行遗传学分析,以了解其临床及基因突变特点。该患者超声提示为短肋、胸廓狭小、长骨短小的胎儿,采集胎儿脐带和父母外周血进行外显子组测序,Sanger验证。全外显子测序检测出胎儿为DYNC2H1基因纯合突变,为c.4267C>T(p.Arg1423Cys),基因及表型均符合SRTD3的诊断,通过Sanger验证,均遗传于表型正常父母亲。该研究结果提示了DYNC2H1基因的c.4267C>T纯合突变是导致该SRTD3病例的致病原因,属于隐性遗传,孕前应加强优生优育门诊咨询,必要时采用辅助生殖获得健康后代。

A case of the short rib-thoracic dysplasia syndrome typeⅢ(SRTD3)was genetically analyzed,to understand its clinical characteristics and genetic mutation.The fetus of this case was found short ribs,narrow rib cage and short long bones by ultrasound.The umbilical cord blood of fetus and the peripheral blood of the parents were collected for exome sequencing and verified by Sanger.A homozygous mutation in the DYNC2H1 gene was confirmed by the whole exome sequencing,which was c.4267C>T(p.Arg1423Cys).The mutation of DYNC2H1 gene and clinical phenotypes were consistent with the diagnosis of short rib-thoracic dysplasia typeⅢ,which was verified by Sanger.In this case,the mutation was inherited from the parents who had normal clinical phenotype.The homozygous mutation of c.4267C>T of the DYNC2H1 gene is the causative cause of this SRTD3 case,which is a recessive inheritance.The prenatal consultation should be strengthened,and if necessary,assisted reproduction should be used to obtain a healthy offspring.