A novel mutation in the CUL7 gene causing 3-M syndrome:a case report
PENG Hang-hang
SUN Wen-qiang
ZHU Xue-ping
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.
Keywords：3-M syndromegrowth retardationCUL7 generecombinant human growth hormone
Publication Date：2025-05-06
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 433-436 )