Identification of 17q12 microdeletion syndrome in a Latin American patient with maturity-onset diabetes of the young subtype 5: a case report

Identification of 17q12 microdeletion syndrome in a Latin American patient with maturity-onset diabetes of the young subtype 5: a case report

Highlights MODY subtype 5 is caused by mutations in the HNF1B gene. MODY should be suspected in individuals who are lean and lack ethnic T2DM risk factors. Deletion syndrome has different phenotypic expressions based on the genes involved.

Bibliographic Details
Main Authors: Guillermo Edinson Guzmán, Ithzayana Madariaga, Carlos Julio Vargas, Laura Ballen Galeano, Maria Angélica Guerra, Jose Antonio Nastasi
Format: Article
Language:English
Published: BMC 2023-04-01
Series:Journal of Medical Case Reports
Subjects:
MODY
Microdeletion syndrome
Monogenic disease
Latin American population
Colombian population
Case report
Online Access:https://doi.org/10.1186/s13256-023-03873-6

Internet

https://doi.org/10.1186/s13256-023-03873-6

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