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Novel pathogenic PDX1 gene variant in a Korean family with maturity-onset diabetes of the young.

Hyunji KimHwa Young KimJae Hyun KimSoo Hyun SeoKyoung Un Park
Published in: Cold Spring Harbor molecular case studies (2023)
The diagnosis of maturity-onset diabetes of the young (MODY), a monogenic form of diabetes mellitus caused by a variant in a single gene, is often uncertain until genetic testing is performed. We report a 13-year-old Korean boy who were initially diagnosed with type 2 diabetes (T2DM). MODY was suspected due to his non-obese 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, San Diego, CA, USA). Sanger sequencing was performed using blood samples from the parents, sibling, 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_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 non-obese, early-onset diabetic patients with multiple affected family members. Increased awareness and aggressive genetic testing for MODY is needed.
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