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中华关节外科杂志(电子版) ›› 2025, Vol. 19 ›› Issue (03) : 382 -386. doi: 10.3877/cma.j.issn.1674-134X.2025.03.017

个案报道

生长分化因子-5基因移码突变致C型短指症1例
张晶晶1,2, 张庆华1,2, 潘海瑞1,2, 汪丹1,2, 郝胜菊1,2, 陈雪1,2,()   
  1. 1730050 兰州,甘肃省妇幼保健院(甘肃省中心医院)医学遗传中心/甘肃省出生缺陷与罕见病临床医学研究中心
    2730050 兰州,甘肃省妇幼保健院(甘肃省中心医院)甘肃省母胎医学与生育保护重点实验室
  • 收稿日期:2024-07-08 出版日期:2025-06-01
  • 通信作者: 陈雪
  • 基金资助:
    甘肃省科技计划(22YF7FA094,23YFFA0045,19424JRRA1121); 甘肃省卫生健康行业科研计划项目(GS2024-026); 兰州市青年科技人才创新项目(2023-NQ-199); 兰州市科技计划项目(2022-5-81,2023-2-61,2024-9-33)

Brachydactyly type C caused by frameshift mutation in growth differentiation factor-5 gene

Jingjing Zhang, Qinghua Zhang, Hairui Pan   

  • Received:2024-07-08 Published:2025-06-01
引用本文:

张晶晶, 张庆华, 潘海瑞, 汪丹, 郝胜菊, 陈雪. 生长分化因子-5基因移码突变致C型短指症1例[J/OL]. 中华关节外科杂志(电子版), 2025, 19(03): 382-386.

Jingjing Zhang, Qinghua Zhang, Hairui Pan. Brachydactyly type C caused by frameshift mutation in growth differentiation factor-5 gene[J/OL]. Chinese Journal of Joint Surgery(Electronic Edition), 2025, 19(03): 382-386.

图1 患者双手畸形。图A为先证者短指畸形;图B为先证者双手X线平片
图2 患者及其父母的全外显子组及Sanger测序结果注:红色箭头表示GDF5基因c.610_c.616 del AGCTTTA位点
图3 患者家系图注:黑色箭头所指为先证者
图4 GDF5蛋白三维结构图及序列保守性分析。图A为野生型GDF5蛋白三维结构图;图B为野生型GDF5蛋白204位丝氨酸与485位缬氨酸之间通过氢键连接相互作用;图C为GDF5蛋白突变后204位丝氨酸变为亮氨酸,亮氨酸与缬氨酸无氢键形成;图D为不同物种之间c.610(exon3)_c.616(exon3)delAGCTTTA(p.Ser204Leufs*58)变异位点的序列保守性分析图
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