Back to Search
Start Over
Novel pathogenic PDX1 gene variant in a Korean family with maturity-onset diabetes of the young.
- Source :
-
Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2024 Jan 10; Vol. 9 (4). Date of Electronic Publication: 2024 Jan 10 (Print Publication: 2023). - Publication Year :
- 2024
-
Abstract
- The diagnosis of maturity-onset diabetes of the young (MODY), a monogenic form of diabetes mellitus caused by a mutation in a single gene, is often uncertain until genetic testing is performed. We report a 13-yr-old Korean boy who was initially diagnosed with type 2 diabetes (T2DM). MODY was suspected because of his nonobese body habitus and family history of multiple affected members. Targeted panel sequencing of all MODY-related genes was performed using the NextSeq 550Dx platform (Illumina). Sanger sequencing was performed using blood samples from the parents, siblings, and other relatives. A frameshift variant in the 3' region of the last exon of PDX1 was detected in the patient and his family members with diabetes. PP1&#95;Moderate criterion was applied and this variant was confirmed to be the genetic cause of diabetes in the family and classified as likely pathogenic. The study highlights the importance of genetic testing for nonobese, early-onset diabetic patients with multiple affected family members. Increased awareness and aggressive genetic testing for MODY are needed.<br /> (© 2023 Kim et al.; Published by Cold Spring Harbor Laboratory Press.)
Details
- Language :
- English
- ISSN :
- 2373-2873
- Volume :
- 9
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Cold Spring Harbor molecular case studies
- Publication Type :
- Academic Journal
- Accession number :
- 37652665
- Full Text :
- https://doi.org/10.1101/mcs.a006305