Maturity-Onset Diabetes Of The Young, Type 7

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

INS, PDX1, HNF1A, GCK, NEUROD1, HNF4A, KCNJ11, PAX4, KLF11, BLK, HNF1B, CEL, APPL1, ABCC8, TGM2, MAFA, CERKL, TCF7, ADA, CRP, GAD1, INSR, HK1, PDHX, SLC2A1, GCG, GCKR, PLCG1, PSMD9, RFX6

INS, PDX1, HNF1A, GCK, NEUROD1, HNF4A, KCNJ11, PAX4, KLF11, BLK, HNF1B, CEL, APPL1, ABCC8, TGM2, MAFA, CERKL, TCF7, ADA, CRP, GAD1, INSR, HK1, PDHX, SLC2A1, GCG, GCKR, PLCG1, PSMD9, RFX6, GLP1R, APOM, FOXA2, NEUROG3, PPP1R3B, EBI3, EIF2AK3, FUBP1, SLC19A2, FANCD2, IL18R1, APRT, PASK, ECB2, TNDM, WFS1, ASIP, NR2F2, SACM1L, SLC30A10, APOC3, APOB, ZGLP1, GGTLC4P, GGT2, GGTLC3, GGTLC5P, ALB, SLC30A8, PTPN22, MED25, EHMT1, NEUROD4, FXYD2, RAB14, CYB5R4, ATM, SCT, BAD, KCNJ1, ISL1, CREBBP, IL6R, IAPP, ONECUT1, EGF, GPD1, GIP, GHRH, GGT1, FABP1, GATA6, FOLR2, FOLR1, FBP1, KCNC4, CD36, SERPINA7, LEPR, BRAF, SLC2A2, FBN2, MAP4K2, PTPRN, PSEN1, PRKG1, PPARA, PCK1, PCBD1, AKT2, NKX6-1, BRCA2, MTNR1B, MFAP1, LOC102723407

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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.

Molecular Genetics

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.