SNOMEDCT: 609574004; ORPHA: 552; DO: 0111106;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 2p25.1 | Maturity-onset diabetes of the young, type VII | 610508 | 3 | KLF11 | 603301 |
A number sign (#) is used with this entry because of evidence that maturity-onset diabetes of the young type 7 (MODY7) is caused by heterozygous mutation in the KLF11 gene (603301) on chromosome 2p25.
For a phenotypic description and a discussion of genetic heterogeneity of MODY, see 606391.
Neve et al. (2005) sequenced the KLF11 gene in 190 probands of families with early-onset type II diabetes mellitus and identified a SNP (A349S; 603301.0001) in affected members of a 4-generation family and another SNP (T220M; 603301.0002) in affected members of 2 unrelated multigenerational families. In 1 of the latter families, the T220M variant was not found in a diabetic sib with disease onset at a later age. Neither variant was found in 313 patients with late-onset type II diabetes or in 313 normoglycemic individuals.
Neve, B., Fernandez-Zapico, M. E., Ashkenazi-Katalan, V., Dina, C., Hamid, Y. H., Joly, E., Vaillant, E., Benmezroua, Y., Durand, E., Bakaher, N., Delannoy, V., Vaxillaire, M., and 15 others. Role of transcription factor KLF11 and its diabetes-associated gene variants in pancreatic beta cell function. Proc. Nat. Acad. Sci. 102: 4807-4812, 2005. [PubMed: 15774581] [Full Text: https://doi.org/10.1073/pnas.0409177102]