What is HNF1B mutation?

Mutations in the HNF1B gene cause maturity-onset diabetes of the young (MODY). MODY is a group of conditions characterized by abnormally high blood sugar that usually begins before age 30. HNF1B gene mutations cases a type of MODY known as renal cysts and diabetes (RCAD) syndrome (also known as HNF1B-MODY or MODY5).

What is 17q12 deletion syndrome?

17q12 deletion syndrome is a condition that results from the deletion of a small piece of chromosome 17 in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q12. The signs and symptoms of 17q12 deletion syndrome vary widely, even among affected members of the same family.

What is a deletion in a chromosome?

What are deletions? The term “deletion” simply means that a part of a chromosome is missing or “deleted.” A very small piece of a chromosome can contain many different genes. When genes are missing, there may be errors in the development of a baby, since some of the “instructions” are missing.

Is MODY a type 1?

MODY is a rare form of diabetes which is different from both type 1 and type 2 diabetes, and runs strongly in families. MODY is caused by a mutation (or change) in a single gene.

How do you treat MODY?

MODY is often treated with oral medications or insulin injections, and some forms may not require any treatment. The specific treatment may vary depending on what genetic mutation caused the condition.

What are some common deletion syndromes?

Examples of chromosomal deletion syndromes include 5p-Deletion (cri du chat syndrome), 4p-Deletion (Wolf-Hirschhorn syndrome), Prader–Willi syndrome, and Angelman syndrome.

What is deletion and types?

Types. Types of deletion include the following: Terminal deletion – a deletion that occurs towards the end of a chromosome. Intercalary/interstitial deletion – a deletion that occurs from the interior of a chromosome. Microdeletion – a relatively small amount of deletion (up to 5Mb that could include a dozen genes).

Is the HNF1B gene missing on chromosome 17?

The HNF1B gene is one of many genes found on chromosome 17. In conditions that involve missing pieces of chromosome 17, the HNF1B gene might be missing along with other genes, resulting in a loss of the HNF1B protein and other proteins.

What kind of disease is caused by a HNF1B mutation?

HNF1B-associated disease is caused by a mistake ( mutation) in the HNF1B gene, which is responsible for making a protein that is involved in the early development of many different organs within the body. [1] Mutations in the HNF1B gene can cause abnormal development of the kidneys, pancreas, parathyroid gland and liver.

How many exons are in the HNF1B gene?

The HNF1B gene contains 9 exons ( Horikawa et al., 1997 ). By analysis of human/rodent somatic cell hybrids, Abbott et al. (1990) mapped the TCF2 gene to chromosome 17q between the centromere and the breakpoint of acute promyelocytic leukemia, i.e., proximal to 17q22.

How is HNF1B related to renal and extra renal disease?

Heterozygous mutations in the coding region or splice sites of HNF1B, and complete gene deletion, each account for ∼50% of all cases of HNF1B-associated disease, respectively, and often arise spontaneously. There is no clear genotype-phenotype correlation, consistent with haploinsufficiency as the disease mechanism.