MODY Type 7
Definition
Heterozygous variants in the KLF11 gene disrupt a transcription factor involved in the transcriptional regulation of the insulin gene in pancreatic beta cells; loss-of-function variants reduce insulin secretory capacity. MODY7 is a very rare subtype; clinical diagnostic criteria include diabetes onset before age 25 and an autosomal dominant family history.
Gene/region analyzed
KLF11 - Whole Gene
Method
Sequence analysis
Accepted sample types
EDTA blood, AF, CVS
Inheritance
Hereditary, autosomal dominant.