中国实用儿科杂志2025，Vol.40Issue(5)：433-436,4.DOI:10.19538/j.ek2025050616
CUL7基因新发突变致3-M综合征1例
A novel mutation in the CUL7 gene causing 3-M syndrome:a case report
摘要
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.关键词
3-M综合征/生长发育迟缓/CUL7基因/rhGHKey words
3-M syndrome/growth retardation/CUL7 gene/recombinant human growth hormone分类
临床医学引用本文复制引用
彭航航,孙文强,朱雪萍..CUL7基因新发突变致3-M综合征1例[J].中国实用儿科杂志,2025,40(5):433-436,4.基金项目
国家自然科学基金面上项目(81971423,82271741) （81971423,82271741）
江苏省卫健委医学科研课题重点项目(ZD2021013) （ZD2021013）
苏州市姑苏卫生人才计划人才科研项目(GSWS2022055) （GSWS2022055）
