Mitchell-Riley Syndrome: Improving Clinical Outcomes and Searching for Functional Impact of RFX-6 Mutations.

ABSTRACT:

Aims/hypothesis

Caused by biallelic mutations of the gene encoding the transcription factor RFX6, the rare Mitchell-Riley syndrome (MRS) comprises neonatal diabetes, pancreatic hypoplasia, gallbladder agenesis or hypoplasia, duodenal atresia, and severe chronic diarrhea. So far, sixteen cases have been reported, all with a poor prognosis. This study discusses the multidisciplinary intensive clinical management of 4 new cases of MRS that survived over the first 2 years of life. Moreover, it demonstrates how the mutations impair the RFX6 function.

Methods

Clinical records were analyzed and described in detail. The functional impact of two RFX6^R181W and RFX6^V506G variants was assessed by measuring their ability to transactivate insulin transc

SUBMITTER: Passone CGB 

PROVIDER: S-EPMC9257252 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature