… destruction of the pancreatic β-cells, which usually leads to … variant in GCK, HNF1A or
HNF4A 18 . Therefore, pathogenic … KCNJ11 lead to neonatal diabetes, MODY or even late-onset …

… of HNF4A-MODY is very similar to HNF1A-MODY with some … Pancreas hypoplasia is
present in HNF1B-MODY patients … The fundamental role of KCNJ11 in monogenic diabetes is …

… of five patients with variants in HNF1A, HNF4A or KCNJ11. … (K ATP ) channel of the pancreatic
beta cell (KCNJ11 or ABCC8). … for monogenic diabetes in our study, followed by variants in …

… neonatal diabetes caused by activating mutations in KCNJ11 … HNF1A/HNF4A-diabetes;
and no treatment in GCK diabetes. … properties, leads to underdevelopment of the pancreas as …

… Over 400 variants of HNF1A have been identified [26]. … Pathology published guidelines
for interpreting sequence … The phenotype of KCNJ11 neonatal diabetes depends on the …

… HNF1A-MODY and HNF4A-MODY are caused by variants in … ATP -NDM caused by either
KCNJ11 or ABCC8 variants with high… and the Association for Molecular Pathology (AMP) jointly …

… Monogenic diabetes may be divided into primary pancreatic … KCNJ11 or ABCC8 mutations,
or loss-of-function HNF1A or … rare variants (eg in MTNR1B, PPARG, SLC30A8, HNF1A, …

… regulate pancreatic β cells function. MD include: neonatal … Heterozygous causative variants
in patients were found in 11 … , 22/264 in the HNF1A gene and 8/264 in the KCNJ11 gene. The …

… in this study, a total of 34 variants of the HNF1A gene (P:19, LP:1, … MODY (CEL MODY;
MODY 8) is mainly due to pancreatic … , 46 in KCNJ11, 27 in INS gene and 14 variants were from …

… in monogenic diabetes, a clearly pathogenic genetic variant can … HNF1A-MODY variant
(p.Gly292fs), the majority of the … pancreatic development [71,72], the mechanism of MODY …