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.
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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).