Likewise, failures in the expression of HNF6,
HNF1b or Foxf1 result in alterations in the development of the gallbladder and the common bile duct.
Other genes associated with MODY are infrequently detected:
HNF1B, IPF, NEUROD, PDX1, KLF11, CEL, PAX4, BLK, ABCC8 and KCNJ11 (3).
PNDM is a genetically heterogeneous disorder due to mutations in 23 different genes described to date: KCNJ11, ABCC8, FOXP3, GCK, PDX1, pancreas-specific transcription factor 1A (PTF1A), EIF2AK3, SLC2A2, GATA6, GATA4, SLC19A2, WFS1, NEUROD1, NEUROG3, RFX6, LRBA, NKX2-2, MNX1, IER3IP1, INS, S T A T 3 , GLIS3 and
HNF1B (3,4,5,6,7,8,9).
* MODY 5 [caused by mutations in hepatocyte nuclear factor 1 homeobox B (
HNF1B)] can adversely affect development of cells in the uterus, kidneys, and kidney tracts, causing diabetes, renal cysts, and gout.
Although genetic testing for UMOD, REN, and
HNF1B mutations is well established, MUC1 genetic testing remains challenging [11].
However, so far the only example of genetic predisposition to GDM is represented by maturity onset diabetes of the young (MODY), a clinically heterogeneous autosomal dominant monogenic disease, accounting for up to 5% of diabetes and due to mutations in different genes such as HNF4A, GCK, HNF1A, IPF1,
HNF1B, and NEUROD1.
Dosage analysis of GCK, HNF4A, and
HNF1B by MLPA using MRC-Holland kit P241-D1 was performed.
The Scorecard panel initially examines the gene expression of undifferentiated and EB differentiated iPSCs for certain pluripotent (CXCL5, Nanog, Pouf51, Sox2, etc.), ectodermal (DRD4, PAX3, Sox1, Wnt1, etc.), mesodermal (HAND1, ESM1, BMP2, ODAM, etc.), and endodermal (FoxA2, GATA4,
HNF1B, Sox17, etc.) markers.
Overexpression of miR-802 in mice causes impaired glucose tolerance and attenuates insulin sensitivity by suppressing its target gene HNF1 Homeobox B (
Hnf1b).
Early development of hyperparathyroidism due to loss of PTH transcriptional repression in patients with
HNF1b mutations?