Mitchell-Riley syndrome

Mitchell-Riley syndrome

A condition characterised by neonatal diabetes, pancreatic hypoplasia, duodenal and jejunal atresia and gall bladder agenesis.

Molecular pathology
Mutation of RFX6 on chromosome 6q22.1, which encodes regulatory factor X6.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
Mentioned in ?
References in periodicals archive ?
The Mitchell-Riley syndrome (1) is a recently diagnosed genetic disorder characterized by neonatal diabetes, pancreatic hypoplasia, intestinal atresia and/or malrotation, biliary atresia, and gallbladder aplasia or hypoplasia (2).
The genetic studies done for Mitchell-Riley syndrome (RFX6 gene locus) confirmed presence of a homozygous mutation in the RFX6 gene (c.1153C>T p.Arg385*), a previously unreported homozygous mutation in exon 11 of the RFX6 gene.
This is the second case of Mitchell-Riley syndrome diagnosed in a population of Arab ethnicity, the first case ever reported from the Arab peninsula and the ninth case overall (9,10).