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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.

SUBMITTER: Khan N 

PROVIDER: S-EPMC5096485 | biostudies-other | 2016 Jun

REPOSITORIES: biostudies-other

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A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome.

Khan Nusrat N   Dandan Waleed W   Al Hassani Noura N   Hadi Suha S  

Journal of clinical research in pediatric endocrinology 20150118 2

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 differen  ...[more]