Neonatal diabetes due to a truncating RFX6 mutation in an extremely low birth weight preterm infant with Mitchell-Riley syndrome.

Abstract excerpt

OBJECTIVES: Mitchell-Riley syndrome (MRS) is a rare autosomal recessive disorder caused by pathogenic variants in the RFX6 gene and characterized by neonatal diabetes, pancreatic hypoplasia with exocrine insufficiency, intestinal atresia, and hepatobiliary abnormalities. Despite increasing recognition of the syndrome, the number of reported cases remains limited and clinical management remains challenging. We...

Topics

• Humans
• Regulatory Factor X Transcription Factors
• Male
• Infant, Newborn
• Intestinal Atresia
• Infant, Premature