假性软骨发育不全一家系临床表现及基因分析  

Clinical manifestation and gene analysis of a family with pseudoachondroplasia

作　　者：段见英 王锦[2] 章印红[3] 刘凡 蔡世岩 沈亦平[2,4] 李利 Duan Jianying;Wang Jin;Zhang Yinhong;Liu Fan;Cai Shiyan;Shen Yiping;Li Li(Department of Pediatrics,the First People′s Hospital of Yunnan Province,Kunming 650000,China;Laboratory of Gene-tic Metabolism Center,the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region,Nanning 530000,China;Department of Medical Genetics,the First People′s Hospital of Yunnan Province,Kunming 650000,China;Department of Medical Genetics,Shanghai Children′s Medical Center,Shanghai 200000,China)

机构地区：[1]云南省第一人民医院儿科,昆明650000 [2]广西壮族自治区妇幼保健院遗传代谢中心实验室,南宁530000 [3]云南省第一人民医院医学遗传科,昆明650000 [4]上海儿童医学中心医学遗传科,上海200000

出　　处：《中华实用儿科临床杂志》2020年第14期1110-1112,共3页Chinese Journal of Applied Clinical Pediatrics

基　　金：云南省万人计划"名医"专项(2018)。

摘　　要：对云南省第一人民医院儿科诊治的1例COMP基因突变致假性软骨发育不全家系临床表现及基因进行回顾分析。患儿,男,3岁3个月,身高增长缓慢1年。查体:身高:87.5 cm(<-3标准差,上部量55.0 cm,下部量32.5 cm,轻度O型腿。神经系统查体:双下肢肌力正常,肌张力低。基因检查发现COMP基因11号外显子杂合基因变异:chr19:18897437 A>G[hg19],NM_000095.2,c.1159T>C,p.Cys387Arg,即翻译产物蛋白中第1159位半胱氨酸变为精氨酸。基因检测是确诊假性软骨发育不全的重要依据,可避免误治,以免影响患儿的终身高。Clinical manifestations and genes of a case from a family with pseudoachondroplasia caused by COMP gene mutation treated in the Department of Pediatrics of the First People′s Hospital of Yunnan Province were retrospectively analyzed.The male patient aged 3 years and 3 months old had a history of slow growth for 1 year.Physical examinations showed that the patient′s height:87.5 cm(less than-3 SD),55.0 cm on top,32.5 cm on bottom,mild O-leg,Nervous system physical examination suggested normal muscle strength of lower limbs and low muscle tone.Genetic examination revealed that the heterozygous gene variation of exon 11 of the COMP gene was chr19:18897437 A>g[hg19],nm_000095.2,c.1159T>c,p.CY3387 Arg,namely the transformation of cysteine to arginine at position 1159 of the translation product protein.Genetic testing is an important basis for the diagnosis of pseudoachondroplasia.It can avoid mistreatment,so as not to affect the predicted adult height of children.

关 键 词：假性软骨发育不全 身材矮小 COMP基因 基因诊断 常染色体显性遗传 

分 类 号：R726.8[医药卫生—儿科]