Keywords
GCK
Gene mutation
GHD
Submitted : 2025-07-09
Accepted : 2025-07-24
Published : 2025-08-08
Abstract
Objective: To investigate the clinical and molecular genetic characteristics of Chinese adolescents with maturity-onset diabetes of the young type 2 (MODY 2) and the safety and efficacy of recombinant human growth hormone (r-hGH). Methods: The clinical features and laboratory data of a family with MODY 2 combined with partial growth hormone deficiency (pGHD), diagnosed at the Fourth Clinical Medical College of Xinjiang Medical University, were analyzed. DNA was extracted from peripheral blood using the column method, and Sanger sequencing was conducted to analyze the glucokinase (GCK), hepatocyte nuclear factor 1α (HNF1α), and hepatocyte nuclear factor 4α (HNF4α) in the proband and relevant family members. Results: A heterozygous mutation in GCK (Reference sequence: NM_000162, location: Exon 10) c.1340G > A (p.R447Q)) was detected in three family members (the proband, the proband’s younger brother, and their mother). The proband also had pGHD. Conclusion: GCK mutations causing MODY 2 exist in the Chinese population, and the combined treatment with r-hGH is safe and effective.
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