A newly-discovered mutation in the RFX6 gene of the rare Mitchell-Riley syndrome

Mitchell-riley syndrome is a genetic disorder characterized by neonatal diabetes,pancreatic hypoplasia,intestinal atresia and/or malrotation,biliary atresia,and gallbladder aplasia or hypoplasia. it was considered a variant of the martinez-frias syndrome with similar phenotypic characteristics,except for neonatal diabetes and tracheoesophageal fistula. however,the genetic mutation in (regulatory factor x on chromosome 6) rfx6 was only detected in babies who had diabetes,making it different from the previously known mutations for the disease. this is the first reported case of a classical mitchell-riley syndrome in the arab peninsula along with additional features and novel mutations in the rfx6 gene. © journal of clinical research in pediatric endocrinology,published by galenos publishing.