ArticleJournal of diabetes investigation2021
Recognition of maturity-onset diabetes of the young in China.
Article in Journal of diabetes investigation, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 32 citations in OpenAlex.
- Case Report: Identification of aFrontiers in endocrinology · 2026Article
- Genotype-phenotype correlations of fasting C-peptide and lipids in HNF1A-MODY: a single-center series and multi-center cross-sectional analysis in Chinese population.Frontiers in endocrinology · 2026Article
- Genomic Insights into Unspecified Monogenic Forms of Diabetes and Their Associated Comorbidities: Implication for Treatment.Current issues in molecular biology · 2025Article
- Characterization of Novel WFS1 Variants in Three Diabetes Pedigrees.Journal of diabetes · 2025Article
- [Research advances in maturity-onset diabetes of the young].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Review
- [Clinical characteristics and genetic analysis of maturity-onset diabetes of the young type 2 diagnosed in childhood].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Article
- Case Report: long-term misdiagnosis and follow-up of a patient withFrontiers in endocrinology · 2025Article
- Focusing on Rare Variants Related to Maturity-Onset Diabetes of the Young in Children.Pediatric diabetes · 2025Article
- Examining the clinical and genetic spectrum of maturity-onset diabetes of the young (MODY) in Iran.Scientific reports · 2024Article
- MODY Only Monogenic? A Narrative Review of theInternational journal of molecular sciences · 2024Review
- Targeted gene panel analysis of Japanese patients with maturity-onset diabetes of the young-like diabetes mellitus: Roles of inactivating variants in the ABCC8 and insulin resistance genes.Journal of diabetes investigation · 2023Article
- Identification and precision therapy for three maturity-onset diabetes of the young (MODY) families caused by mutations in the HNF4A gene.Frontiers in endocrinology · 2023Article
- A case report of Maturity-onset diabetes of the young 12: large fragment deletion inAnnals of translational medicine · 2022Article
- NovelWorld journal of clinical cases · 2022Article
- Clinical Characteristics of Patients WithFrontiers in endocrinology · 2022Review
- Comprehensive genetic screening reveals wide spectrum of genetic variants in monogenic forms of diabetes among Pakistani population.World journal of diabetes · 2021Article
- Identification of NovelJournal of diabetes research · 2021Article
- Functional Characterization of a Novel Heterozygous Mutation in the Glucokinase Gene That Causes MODY2 in Chinese Pedigrees.Frontiers in endocrinology · 2021Article
- Precision Therapy for a Chinese Family With Maturity-Onset Diabetes of the Young.Frontiers in endocrinology · 2021Article
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Authors and funding
12 authors at 5 institutions in 2 countries.
Funding
Abstract
AIMS/
introductionGiven that mutations related to maturity-onset diabetes of the young (MODY) are rarely found in Chinese populations, we aim to characterize the mutation spectrum of MODY pedigrees. MATERIALS AND
methodsMaturity-onset diabetes of the young candidate gene- or exome-targeted capture sequencing was carried out in 76 probands from unrelated families fulfilling the clinical diagnostic criteria for MODY. MAF <0.01 in the GnomAD or ExAC database was used to filter significant variants. Sanger sequencing was then carried out to validate findings. Function prediction by SIFT, PolyPhen-2 and PROVEAN or CADD was carried out in missense mutations.
resultsA total of 32 mutations in six genes were identified in 31 families, accounting for 40.79% of the potential MODY families. The MODY subtype detection rate was 18.42% for GCK, 15.79% for HNF1A, 2.63% for HNF4A, and 1.32% for KLF11, PAX4 and NEUROG3. Seven nonsense/frameshift mutations and four missense mutations with damaging prediction were newly identified novel mutations. The clinical features of MODY2, MODY3/1 and MODYX are similar to previous reports. Clinical phenotype of NEUROG3 p.Arg55Glufs*23 is characterized by hyperglycemia and mild intermittent abdominal pain.
conclusionsThis study adds to the emerging pattern of MODY epidemiology that the proportion of MODY explained by known pathogenic genes is higher than that previously reported, and found NEUROG3 as a new causative gene for MODY.
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