title: A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome.
abstract: 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.
authors.affiliation: Tawam Hospital, Clinic of Pediatrics and Neonatology, Al Ain, United Arab Emirates, Phone: +971 (0) 50 845 62 67 E-mail: nukhan@seha.ae.
authors.forename: Nusrat
authors.initials: N
authors.lastname: Khan
authors.forename: Waleed
authors.initials: W
authors.lastname: Dandan
authors.forename: Noura
authors.initials: N
authors.lastname: Al Hassani
authors.forename: Suha
authors.initials: S
authors.lastname: Hadi
mesh_terms: D003920:Diabetes Mellitus / Q000235:genetics* / Q000503:physiopathology; D005705:Gallbladder Diseases / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D007231:Infant, Newborn; D007409:Intestinal Atresia / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D000071701:Regulatory Factor X Transcription Factors / Q000235:genetics*
chemical_list: D000071701:Regulatory Factor X Transcription Factors; C547964:Rfx6 protein, human