Mitchell-Riley syndrome

Definition:

Mitchell-Riley syndrome is a neonatal diabetes syndrome that involves abnormalities of the anterior gut as well as diabetes. Patients with this syndrome are typically diagnosed within the first week of life and generally die within their first year of life. Mutations in rfx6 have been associated with Mitchell-Riley syndrome.

References:

[1]. Esther J Pearl, et al. Functional analysis of Rfx6 and mutant variants associated with neonatal diabetes. Dev Biol. 2011 Mar 1;351(1):135-45. [Content Brief]

[2]. Jennifer P Concepcion, et al. Neonatal diabetes, gallbladder agenesis, duodenal atresia, and intestinal malrotation caused by a novel homozygous mutation in RFX6. Pediatr Diabetes. 2014 Feb;15(1):67-72. [Content Brief]

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