一例2型肢端发育不全症的临床特点及基因变异分析  

Genetic analysis of a child with acrodysostosis type 2

作　　者：王丽[1,2] 李群[1] 李辛 王依柔 李娟 王剑[1] 王秀敏[1] Wang Li;Li Qun;Li Xin;Wang Yirou;Li Juan;Wang Jian;Wang Xiumin(Shanghai Children’s Medical Center Affiliated to Shanghai Jiaotong University School of Medicine,Shanghai 200127,China;Department of Pediatrics,the Affiliated Hospital of Jining Medical College,Jining,Shandong 272000,China)

机构地区：[1]上海交通大学医学院附属上海儿童医学中心,200127 [2]济宁医学院附属医院儿科,山东272000

出　　处：《中华医学遗传学杂志》2020年第10期1128-1131,共4页Chinese Journal of Medical Genetics

基　　金：浦东新区科技发展基金(PKJ2018-Y46)。

摘　　要：目的分析1例2型肢端发育不全症患儿的临床特点及基因变异,提高临床医师对该病的认识。方法对患儿进行病史采集及辅助检查,提取患儿及父母外周血基因组DNA,进行高通量测序,并用Sanger测序法进行验证。结果患儿表现为面中部发育不良,眼距宽,鼻梁肥厚,鼻孔小而向上翘,拇指/趾宽大,其余指/趾短粗。基因检测显示PDE4D基因存在"错义变异c.1813T>C,p.Tyr605His(杂合)",其父母无该位点变异。该例样本变异为新发现的变异。结论确诊1例2型肢端发育不全症病例,PDE4D基因变异导致该病在国内尚未见报道。Objective To analyze the clinical characteristics and genetic variation in a child with acrodysostosis type 2.Methods The child has undergone history taking and physical examination.Genome DNA was extracted from peripheral blood samples from him and his parents.High-throughput sequencing was carried out.The result was verified by Sanger sequencing.Results The 8-year-old boy presented with mid-face hypoplasia,hypertelorism,prominent nasal bridge,small and upturned nostrils,broad thumb and great toes,brachydactyly of remaining fingers and toes.Genetic testing revealed that the child has carried a heterozygous c.1813T>C(p.Tyr605His)missense mutation of the PDE4D gene.The same mutation was not found in either parent and was unreported previously.Conclusion The child was diagnosed with acrodysostosis type 2 due to the novel mutation of the PDE4D gene.

关 键 词：短指/趾畸形 2型肢端发育不全症 PDE4D基因 

分 类 号：R725.9[医药卫生—儿科]