Maturity-onset diabetes of the young panel (MODY)

Maturity-onset diabetes of the young panel (MODY) [27 genes]: It includes all genes associated with MODY (AKT2, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, PAX4, PDX1, PTF1A, RFX6, APPL1) and other early-onset forms of diabetes (EIF2AK3, FOXP3, GATA6, GLIS3, IER3IP1, INSIG2, INSR, NEUROG3, SLC2A2, TBC1D4 WFS1).

Adequate coverage for structural variants or CNVs (copy number variants).

Study requisition form
Informed consent
AKT2BLKCELGCKHNF1AHNF1BHNF4AINSKCNJ11KLF11
NEUROD1PAX4PDX1PTF1ARFX6APPL1EIF2AK3FOXP3GATA6GLIS3
IER3IP1INSIG2INSRNEUROG3SLC2A2TBC1D4WFS1

Maturity-onset diabetes of the young panel (MODY) [27 genes]: It includes all genes associated with MODY (AKT2, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, PAX4, PDX1, PTF1A, RFX6, APPL1) and other early-onset forms of diabetes (EIF2AK3, FOXP3, GATA6, GLIS3, IER3IP1, INSIG2, INSR, NEUROG3, SLC2A2, TBC1D4 WFS1).

Adequate coverage for structural variants or CNVs (copy number variants).

Study requisition form
Informed consent
Nota genes
NOTES ON GENES
-> Priority genes: Genes where there is sufficient evidence (clinical and functional) to consider them as associated with the disease; they are included in clinical practice guidelines. -> Secondary genes: Genes related to the disease but with a lower level of evidence
or constituting sporadic cases. -> * Candidate genes: Without sufficient evidence in humans but potentially associated with the disease.

Patients with early-onset diabetes (age generally <35 years) presenting with:

  • Atypical characteristics for type 1 diabetes mellitus including absence of pancreatic islet autoantibodies, evidence for endogen insulin production beyond the “honeymoon period”, measurable C-peptide in the presence of hyperglycemia, low insulin treatment requirements, absence of ketoacidosis in the absence of insulin treatment.
  • Atypical characteristics for diabetes mellitus type 2 including the following: onset of diabetes before age 45, absence of significant obesity, absence of acanthosis nigricans, normal triglyceride levels, and/or normal or elevated HDL-C.
  • Mild, stable fasting hyperglycemia not progressing or not noticeably responding to pharmacological therapy.
  • Extreme sensitivity to sulfonylureas.
  • Extrapancreatic features (renal, hepatic, gastrointestinal).
  • Personal or family history of neonatal diabetes or neonatal hypoglycemia.
  • Family history of diabetes consistent with a dominant autosomal inheritance pattern, contrasting with diabetes types 1 and 2.

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