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

doi:10.3389/fendo.2022.802351

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Article

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

Frontiers in endocrinology - 1 Jan 2022

Passone Caroline de Gouveia Buff, Vermillac Gaëlle, Staels Willem, Besancon Alix, Kariyawasam Dulanjalee, Godot Cécile, Lambe Cécile, Talbotec Cécile, Girard Muriel, Chardot Christophe, Berteloot Laureline, Hachem Taymme, Lapillonne Alexandre, Poidvin Amélie, Storey Caroline, Neve Mathieu, Stan Cosmina, Dugelay Emmanuelle, Fauret-Amsellem Anne-Laure, Capri Yline, Cavé Hélène, Ybarra Marina, Chandra Vikash, Scharfmann Raphaël, Bismuth Elise, Polak Michel, Carel Jean Claude, Pigneur Bénédicte, Beltrand Jacques

Abstract excerpt

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...

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Identifiers

PMID: 35813646
DOI: 10.3389/fendo.2022.802351
PMCID: PMC9257252

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