中国实用儿科杂志

中国实用儿科杂志 ›› 2025, Vol. 40 ›› Issue (5): 433-436.DOI: 10.19538/j.ek2025050616

• 病例报告 • 上一篇    下一篇

CUL7基因新发突变致3-M综合征1例

  

  1. 苏州大学附属儿童医院新生儿科，江苏  苏州  215025
  • 出版日期:2025-05-06 发布日期:2025-08-28
  • 通讯作者: 朱雪萍，电子信箱：zhuxueping4637@hotmail. com
  • 基金资助:
    国家自然科学基金面上项目（81971423，82271741）；江苏省卫健委医学科研课题重点项目（ZD2021013）；苏州市姑苏卫生人才计划人才科研项目（GSWS2022055）

A novel mutation in the CUL7 gene causing 3-M syndrome：a case report

  1. Department of Neonatology，Children’s Hospital of Soochow University，Suzhou  215025，China
  • Online:2025-05-06 Published:2025-08-28

摘要： 回顾性分析2021年7月苏州大学附属儿童医院收治的1例因生长发育迟缓近8年入院的3-M综合征患儿的临床、随访资料及基因检测结果，显示患儿CUL7基因存在复合杂合突变：已报道的剪切位点变异c. 3355+5G>A（母源）及未报道的新无义突变c. 4582C>T（父源）。根据美国医学遗传学与基因组学学会（ACMG）标准，c. 4582C>T被判定为致病性（PVS1+PM2+PM3），为全球首次报道。经重组人生长激素（rhGH）治疗1年，患儿身高增长6. 6cm，但追赶性生长有限。该病例扩展了CUL7基因突变谱，为3-M综合征基因型-表型关联研究提供了新证据。

关键词: 3-M综合征, 生长发育迟缓, CUL7基因, rhGH

Abstract: This study retrospectively analyzed the clinical data，follow-up records，and genetic findings of a child with 3-M syndrome， who was admitted to the Children's Hospital of Soochow University in July 2021 for growth retardation for nearly 8 years. Genetic testing revealed compound heterozygous mutations in the CUL7 gene：a previously reported splice-site variant c. 3355+5G>A（maternally inherited）and a novel nonsense mutation c. 4582C>T（paternally inherited）. According to ACMG guidelines，c. 4582C>T was classified as pathogenic（PVS1+PM2+PM3）and represented the first case reported globally. After one year of recombinant human growth hormone（rhGH）therapy，the patient's height increased by 6. 6 cm，but catch-up growth remained limited. This case expands the mutational spectrum of the CUL7 gene and provides novel evidence for genotype-phenotype correlation of 3-M syndrome. 

Key words: 3-M syndrome, growth retardation, CUL7 gene, recombinant human growth hormone