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Table 2 Mutations in genes associated with monogenic diabetes

From: Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center

Gene Nucleotide change Amino acid change Exon/Intron Segregation data ACMG/AMP guidelines Phenotype
HNF1B c.443C > T p.S148L 1 NA Pathogenic MODY 5
KCNJ11 c.602G > A p.R201H 1 NA Pathogenic DEND syndrome
WFS1 c.2171C > T p.P724L 8 Sibling Pathogenic Wolfram syndrome
WFS1 c.1725_1742del p.G587_G592del 8 Sibling Likely pathogenic Wolfram syndrome
INSR c.3196C > T p.R1066* 17 Paternal Pathogenic Donohue syndrome
INSR c.3614C > T p.Q1232* 21 Maternal Pathogenic Donohue syndrome
FOXP3 c.201 + 1G > A Splice site 1 Maternal Pathogenic IPEX syndrome
SLC2A2 c.13A > T p.K5* 1 NA Pathogenic Fanconi-Bickel syndrome
EIF2AK3 c.1293G > A p.W431* 6 NA Likely pathogenic Wolcott-Rallison syndrome
CFTR c.4056G > C p.Q1352H 25 NA Uncertain significance CFRD
CFTR c.1322 T > C p.L441P 10 NA Uncertain significance CFRD
MTTL1 m.3243A > G Mitochondrial gene Mitochondrial gene NA Pathogenic MIDD
  1. Bold, novel mutation; ACMG/AMP Interpretation according to the guidelines of the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) [24], NA not available