RFX6 is a human gene that encodes regulatory factor X6, a transcription factor involved in the development and function of pancreatic endocrine cells. It is best known clinically for its association with Mitchell-Riley syndrome, a rare autosomal recessive condition involving neonatal diabetes and congenital digestive-system abnormalities.
RFX6 is part of the regulatory factor X family of transcription factors. In medical genetics, it is usually discussed in relation to pancreatic development, insulin-producing beta cells and syndromic forms of monogenic diabetes.
Function
RFX6 helps regulate gene expression during the formation of pancreatic endocrine cells. These cells include insulin-producing beta cells and other hormone-producing cell types in the islets of Langerhans.
Research in humans and model systems links RFX6 to pancreatic endoderm differentiation, beta-cell maturation and the expression of genes needed for insulin secretion. This makes the gene important both in embryonic development and in later islet-cell function.
Mitchell-Riley Syndrome
Mitchell-Riley syndrome is caused by biallelic pathogenic variants in RFX6. Reported features include neonatal diabetes, pancreatic hypoplasia, absent or underdeveloped gallbladder, duodenal atresia, intestinal problems and severe chronic diarrhoea.
The condition is rare and can be severe. A 2022 Frontiers in Endocrinology review described a small number of reported cases and noted that improved multidisciplinary care had allowed some affected children to survive beyond early infancy.
Diabetes Research
RFX6 is also studied because of its relationship with diabetes outside classic Mitchell-Riley syndrome. NCBI's gene record links RFX6 literature to pancreatic endoderm differentiation and to heterozygous protein-truncating variants associated with maturity-onset diabetes of the young with reduced penetrance.
The gene therefore sits at an important point between developmental genetics and clinical diabetes research. It helps researchers understand why some forms of diabetes begin in the neonatal period, why some are syndromic and how beta-cell identity is maintained.
Inheritance and Testing
Mitchell-Riley syndrome linked to RFX6 is inherited in an autosomal recessive pattern. In that situation, an affected person has pathogenic variants affecting both copies of the gene.
Genetic testing may be considered in neonates or children with diabetes together with digestive-system malformations, pancreatic hypoplasia, gallbladder abnormalities or other features suggesting a syndromic monogenic cause.
See Also
References
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