A rare, likely pathogenic GCK variant related to maturity-onset diabetes of the young type 2: A case report

• 발행기관: 대한의학유전학회
• 저자명: Min-Kyung So Jungwon Huh Hae Soon Kim
• 간행물 정보: 『대한의학유전학회지』제18권 제2호, 132~136쪽, 전체 5쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2021.12.31

영문 초록

Maturity-onset diabetes of the young (MODY) is caused by autosomal dominant pathogenic variants in one of 14 currently known monogenic genes. Characteristics of patients with MODY include early-onset clinical disease with a family history of diabetes and negative autoantibodies and may present with heterogeneous phenotypes according to the different subtypes. Here, we report a patient with early-onset diabetes who presented asymptomatic mild fasting hyperglycemia with the ab-sence of autoantibodies. She was diagnosed with glucokinase (GCK)-MODY caused by a GCK variant, c.1289T>C (p.L430P), identified by targeted gene-panel testing, and the affected father had the same variant. We interpreted this rare missense vari-ant as a likely pathogenic variant and then she stopped taking oral medication. This case highlights the usefulness of gene-panel testing for accurate diagnosis and appropriate management of MODY. We also note the importance of familial genetic testing and genetic counseling for the proper interpretation of MODY variants.

목차

Introduction

Case

Discussion

Authors’ Contributions

References

키워드

Maturity-onset diabetes of the young Glucokinase Genetic testin