Other Rare Gene Mutations

Cystic Fibrosis Related Diabetes

Cystic fibrosis related diabetes is a rare cause of diabetes. Cystic fibrosis is caused by inherited a mutated copy of the CFTR gene from both parents. This gene is important for the transport of salt on the surface of cells. Those with cystic fibrosis can have a range of medical problems including abnormal hormone and gut enzyme production from the pancreas. Many with cystic fibrosis related diabetes will require insulin therapy.

EIF2AK3

EIF2AK3 related diabetes is caused by inherited a mutated copy of the EIF2AK3 gene from both parents. This gene is important in the normal development of beta cells. This is a form of monogenic neonatal diabetes presents within the first few months of life. Insulin therapy is invariably required.

FOXP3

FOXP3 related diabetes is seen primarily in boys as the gene is on the X chromosome. The cause of diabetes is felt to be autoimmune in nature and most boys with a FOXP3 mutation will have a number of other autoimmune problems. Diabetes typically develops in the first year of life.

GATA6

Mutations within the GATA6 gene can result in neonatal diabetes. The gene is important in the normal development of the pancreas, gut and heart. GATA6 related diabetes is associated with pancreatic, gastrointestinal and cardiac malformations.

GLIS3

GLIS3 related diabetes is a form of monogenic neonatal diabetes caused by inherited a mutated copy of the GLIS3 gene from both parents. Infants with mutations in this gene typically have hypothyroidism from birth and may have multiple other congenital abnormalities.

Hemochromatosis (HFE gene)

This gene is important in the regulation of iron storage. Hemachromatosis may develop in those that inherit a mutated copy of the HFE gene from both parents. Diabetes typical occurs in adulthood and presents in men at an earlier age than women.

IER3IP1

IER3IP1 related diabetes is a form of monogenic neonatal diabetes caused by inherited a mutated copy of the IER3IP1 gene from both parents. This gene is important in the normal development of beta cells and nerve tissue. Mutations of this gene are associated with significant neurological complications.

KLF11

KLF11 related diabetes is a rare form of MODY.

NEUROD1

NEUROD1 related diabetes is a form of monogenic neonatal diabetes caused by inherited a mutated copy of the NEUROD1 gene from both parents. This gene is important in the normal development of nerve tissue. Significant neurological complications are seen in infants with this form of diabetes.

NEUROG3

NEUROG3 related diabetes is a form of monogenic neonatal diabetes caused by inherited a mutated copy of the NEUROG3 gene from both parents. Infants with mutations in this gene typically have severe diarrhea from birth.

PDX1

PDX1 is a rare cause of MODY or neonatal diabetes. The gene is important in the normal development of the pancreas and affected individuals may have an absent or underdeveloped pancreas.

PTF1A

PTF1A related diabetes is a form of monogenic neonatal diabetes caused by inherited a mutated copy of the PTF1A gene from both parents. This gene is important in the normal development of the brain and the pancreas. Significant neurological complications are seen in infants with this form of diabetes.

RFX6

PAX6

PAX6 related diabetes is a form of monogenic neonatal diabetes caused by inherited a mutated copy of the PAX6 gene from both parents. This gene is important in the normal development of the brain and the eyes. Significant neurological complications are seen in infants with this form of diabetes. Some affected individuals will have the eye and neurological problems without diabetes.

SLC19A2

SLC2A2

WFS1

Questions?

Contact us at The National Center for Monogenic Diabetes at the University of Chicago Monogenic Diabetes Registry