FBN1基因突变致Acromicric发育不良一例报道  

A case of Acromicric dysplasia with FBN1 mutation

作　　者：徐晓雯 鲁萍[1] 段晶[1] 段红丽 丁臻博[1] 何彦册 彭姝晗 Xu Xiaowen;Lu Ping;Duan Jing;Duan Hongli;Ding Zhenbo;He Yance;Peng Shuhan(Department of Pediatrics,the First Affiliated Hospital of Kunming Medical University,Kunming 650032,China;Department of Pediatrics,the People′s Hospital of Luxi,Honghe 652400,China)

机构地区：[1]昆明医科大学第一附属医院儿科,昆明650032 [2]泸西县人民医院儿科,红河652400

出　　处：《中华内分泌代谢杂志》2023年第3期265-268,共4页Chinese Journal of Endocrinology and Metabolism

摘　　要：Acromicric发育不良(Acromicric dysplasia,AD)是一种罕见的骨发育不良常染色体显性遗传病,以身材矮小、手足短小、智力正常、面部轻度畸形、特征性的X线异常为主要特征。本文报道分析本院1例AD患儿的临床资料及基因检测结果。先证者主要表现为身材矮小、手足短小、特征性面容、手部X线见短掌骨和指骨。行矮小相关基因外显子测序分析,结果显示先证者在FBN1:c.5141T>G(p.Met1714Arg)存在杂合突变,该变异遗传自同样身材矮小的母亲及外祖父。AD是一种罕见的先天性骨发育不良疾病,与FBN1基因突变有关,符合常染色体显性遗传病的发病机制。Acromicric dysplasia(AD)is a rare skeletal dysplasia characterized by severe short stature,short hands and feet,normal intelligence,mild facial dysmorphism,and radiological characteristics.The clinical data and genetic test results of one patient with AD in our hospital were analyzed,and the clinical characteristics of this case were summarized.The main manifestations of the child were short stature,short hands and feet,mild facial dysmorphism,short and stubby metacarpals and phalanges on hand X-ray.One mutation,FBN1:c.5141T>G(p.Met1714Arg),was identified in this child,the mutation is inherited from her short mother and grandfather.AD is a rare congenital skeletal dysplasia disorder associated with mutations in the FBN1 gene.It conforms to the pathogenesis of autosomal dominant genetic disease.

关 键 词：Acromicric发育不良 身材矮小 FBN1 儿童 

分 类 号：R725.9[医药卫生—儿科]