Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene

Case Reports in Genetics
Marta Zegre AmorimLuis Pereira-da-Silva

Abstract

A novel RFX6 homozygous missense mutation was identified in an infant with Mitchell-Riley syndrome. The most common features of Mitchell-Riley syndrome were present, including severe neonatal diabetes associated with annular pancreas, intestinal malrotation, gallbladder agenesis, cholestatic disease, chronic diarrhea, and severe intrauterine growth restriction. Perijejunal tissue similar to pancreatic tissue was found in the submucosa, a finding that has not been previously reported in this syndrome. This case associating RFX6 mutation with structural and functional pancreatic abnormalities reinforces the RFX6 gene role in pancreas development and β-cell function, adding information to the existent mutation databases.

References

Jun 1, 1986·American Journal of Surgery·E C Lai, R K Tompkins
Aug 10, 2004·World Journal of Gastroenterology : WJG·Ivan JovanovicMiodrag Krstic
Feb 12, 2010·Nature·Stuart B SmithMichael S German
Jan 11, 2011·Developmental Biology·Esther J PearlMarko E Horb
Oct 4, 2011·American Journal of Medical Genetics. Part a·Ronen SpiegelStavit A Shalev
Nov 26, 2014·Journal of Perinatology : Official Journal of the California Perinatal Association·L CruzA Kushnir

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Citations

Aug 16, 2016·European Journal of Medical Genetics·Martina SkopkovaDaniela Gasperikova
Mar 21, 2019·World Journal of Diabetes·Ismail Sami MahmoudWalhan Alshaer
Jul 6, 2019·Frontiers in Pediatrics·Mohammed Abdulmageed KambalMohsen Suliaman Al-Atawi

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Methods Mentioned

BETA
biopsy
PCR

Software Mentioned

Mutation Surveyor

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