摘要
目的分析由TRAPPC2基因变异致X连锁迟发性脊椎骨骺发育不良(SEDT-XL)的临床及基因变异特点。方法回顾分析1个SEDT-XL家系的临床资料及基因检测结果。结果先证者,9岁2个月,因生长缓慢就诊,语言、运动及智力发育正常。身高115 cm(<-3SD),臂间距109 cm,上部量56 cm,下部量59 cm,体质量21 kg,招风耳,尖下颌,牙列不齐,颈短,脊柱侧弯,心肺腹未见异常。采集先证者及其父母和舅舅的外周血行全外显子测序,结果显示先证者TRAPPC2基因4号外显子区域存在1个半合子变异c.115 delC,导致氨基酸改变p.Q 39 Sfs*3。该半合子变异来自其母亲,其舅舅存在相同的半合子变异位点。结论TRAPPC2基因4号外显子区域c.115delC突变为该家系SEDT-XL的致病原因。
Objective To analyze the clinical and genetic characteristics of X-linked spondyloepiphyseal dysplasia tarda(SEDT-XL)caused by the mutation of TRAPPC2 gene.Methods The clinical data and genetic results of a SEDT-XL family were retrospectively analyzed.Results The proband,a 9 years and 2 months old boy,was 115 cm(<−3SD)in height,109 cm in arm distance,56 cm in upper part,59 cm in lower part and 21 kg in weight,prominent ears,sharp mandible,irregular dentition,short neck,scoliosis,no obvious abnormality was found in the heart,lung and abdomen.Motor and speech development were normal.The genomic DNA was extracted from the peripheral blood samples of the proband,his parents and uncle,and the whole exome sequencing was performed.A hemizygous mutation of c.115delC in the exon 4 of the TRAPPC2 gene of the proband resulted in the amino acid change p.Q39Sfs*3.The hemizygous mutation was inherited from his mother and his uncle had the same hemizygous mutation.Conclusion The mutation of c.115delC in exon 4 of TRAPPC2 gene is the pathogenic cause of SEDT-XL in the family.
作者
王莉莉
吴海瑛
孙辉
王晓艳
张丹丹
谢蓉蓉
王凤云
陈婷
陈秀丽
陈临琪
WANG Lili;WU Haiying;SUNHui;WANG Xiaoyan;ZHANG Dandan;XIE Rongrong;WANG Fengyun;CHEN Ting;CHEN Xiuli;CHEN Linqi(Department of Endocrinology,Metabolism and Genetic Disorders,Children's Hospital of Soochow University,Suzhou 215000,Jaingsu,China)
出处
《临床儿科杂志》
CAS
CSCD
北大核心
2020年第5期321-323,共3页
Journal of Clinical Pediatrics
基金
苏州市科技计划项目(No.SYS201766)。
