Mody 7 E11.-

MODY is the acronym for "Maturity-onset Diabetes of the Young" and describes a group of autosomal-dominantly inherited, genetically heterogeneous, not always insulin-dependent forms of diabetes. The MODY forms of diabetes are caused by various disorders of beta cell function in the pancreas. The body weight of MODY patients is usually normal. Neither are any of the autoimmune phenomena characteristic of type 1 diabetes observed. Rare are other associated organ dysplasias (eyes, pancreas, intestine).

<1% of MODY cases

In the rare MODY 7 variant there are mutations in the KLF11 gene. This gene encodes a zinc finger transcription factor and is located on the short arm of chromosome 2 (2p25) (Scohy S et al. 2000). The KLF11 transcription factor regulates the transcription of genes involved in insulin production and secretion in pancreatic beta cells.

Clinically MODY 7 shows a very variable symptomatology partly associated with obesity. A pathologically decreased insulin production is in the foreground. The inheritance is autosomal dominant.

Indication for the detection of MODY 7 gene mutation:

• age of manifestation in early adolescence
• no GAD and/or IA2 antibodies (exclusion of type 1 diabetes)
• Positive family history, autosomal dominant inheritance
• Diabetes without obesity
• Progressive hyperglycaemia in old age
• No insulin resistance
• Pancreatic aplasia with neonatal diabetes

1. Neve B et al (2005) Role of transcription factor KLF11 and its diabetes-associated gene variants in pancreatic beta cell function. Proc Nat Acad Sci 102: 4807-4812
2. Scohy S et al (2000) Identification of KLF13 and KLF14 (SP6), novel members of the SP/XKLF transcription factor family. Genomics 70: 93-101.