ESPE Abstracts (2022) 95 P1-256

ESPE2022 Poster Category 1 Diabetes and Insulin (86 abstracts)

Analysis of NGS panel examination in patients suspected of MODY in a single tertiary hospital

Eunyoung Joo , Jisun Park , Sujin Kim & Ji-Eun Lee


Inha University Hospital, Incheon, Republic of South Korea

Introduction: Maturity-onset diabetes of the young (MODY) is a genetically heterogeneous group of monogenic endocrine disorders which is inherited as autosomal dominant pattern and characterized pancreatic β-cell dysfunction. It has been estimated to represent around 1% to 6% of all diabetes. The hallmark of MODY is that the onset is before 25 years of age and inherited in an autosomal dominant manner. Generally, there are several known genes that cause MODY: HNF-4α, GCK, HNF-1α, PDX1, HNF-1β, NEUROD1, KLF11, CEl, PAX4, INS, BLK, ABCC8, APLL1 and KCNJ11. Since MODY is relatively rare in Korea, there have been few studies about its genetic findings and clinical characteristics. Thus, we analyzed genetic findings of MODY in a single tertiary university hospital.

Methods: We reviewed retrospectively 24 patients’ medical records and genetic analysis using Next-Generation Sequencing (NGS) panels from June, 2019 to May, 2021 in Inha university hospital.

Results: Mean age of the subjects was 13.9 years old. The number of male was 10 and female was 14. Of the 24 subjects, 8 (33.3%) patients had sequence variants in at least one gene. Variants in NEUROD1, WFS1, HNF1A, GATA4, CEl, ABCC8, SLC2A2, CP and HADH gene were detected as pathogenic, likely pathogenic or variants of uncertain significance type. Among them, a NEUROD1 variant which is rare in MODY was first detected in Korea. Additionally, heterozygous variants in both HNF1A and CEL gene in one of the subjects were found.

Conclusions: Since studies related to MODY have not been actively or on a large scale in Korea, there has been lack of knowledge about prevalent genes associated with MODY in Korean populations. So, we report the results of NGS panels analysis in MODY patients in our hospital. To identify more candidate genes and inheritance patterns, further large studies are needed.

Volume 95

60th Annual ESPE (ESPE 2022)

Rome, Italy
15 Sep 2022 - 17 Sep 2022

European Society for Paediatric Endocrinology 

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