Genomic landscape of Mexican patients with maturity onset diabetes of the young: beyond mutations in MODY-known genes - Summary - MDSpire

Genomic landscape of Mexican patients with maturity onset diabetes of the young: beyond mutations in MODY-known genes

  • By

  • Alberto Moscona-Nissan

  • Daniel Marrero-Rodríguez

  • Sergio Andonegui-Elguera

  • Eduardo Salif Luna-Ávila

  • Florencia Martínez-Mendoza

  • Sandra Vela-Patiño

  • Itzel Ramírez-Ramos

  • Silvia Hinojosa-Alvarez

  • Jesus Hernandez-Perez

  • Rocio A. Chavez-Santoscoy

  • Sophia Mercado-Medrez

  • Kapy S. León-Wu

  • Regina De Miguel-Ibáñez

  • Moisés Mercado

  • Keiko Taniguchi-Ponciano

  • Aldo Ferreira-Hermosillo

  • July 1, 2026

  • 0 min

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Objective:

To characterize the genomic landscape of Maturity Onset Diabetes of the Young (MODY) in a Mexican cohort using Whole Exome Sequencing (WES) and compare it with Type 2 Diabetes Mellitus (T2DM) patients and healthy controls.

Approach:
  • Study Design: WES was performed on 17 patients with MODY, 17 with T2DM, and 17 healthy controls. The study compared the single nucleotide variant landscape across groups.
Key Findings:
  • MODY genes used for routine diagnosis showed low discrimination utility among MODY, T2DM, and HC groups.
  • 14 genes were identified with variants that distinguished MODY from T2DM and HC, including MAP2K3, SYT15, KCNJ12, PEX5, and TPTE.
  • Variants in these genes were present in 75-100% of MODY cases but absent in T2DM and HC.
Interpretation:

The study highlights the complex genetic architecture of MODY in the Mexican population and suggests that identified genes may serve as diagnostic biomarkers.

Limitations:
  • The sample size was limited to 51 participants.
  • The study focused only on a specific Mexican cohort, which may not represent the broader Latino population.
Conclusion:

The findings contribute to understanding the genetic basis of MODY in non-Caucasian populations and emphasize the need for further research in diverse genetic backgrounds.

Original Source(s)

Genomic landscape of Mexican patients with maturity onset diabetes of the young: beyond mutations in MODY-known genes

  • by Alberto Moscona-Nissan, Daniel Marrero-Rodríguez, Sergio Andonegui-Elguera, Eduardo Salif Luna-Ávila, Florencia Martínez-Mendoza, Sandra Vela-Patiño, Itzel Ramírez-Ramos, Silvia Hinojosa-Alvarez, Jesus Hernandez-Perez, Rocio A. Chavez-Santoscoy, Sophia Mercado-Medrez, Kapy S. León-Wu, Regina De Miguel-Ibáñez, Moisés Mercado, Keiko Taniguchi-Ponciano, Aldo Ferreira-Hermosillo

  • July 1, 2026

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