Case Report
Volume: 1 | Issue: 2 | Published: Nov 30, 2018 | Pages: 87 - 92 | DOI: 10.24911/JBCGenetics/183-1529491124
Mitchell-Riley Syndrome Report of Novel Mutation and Review of the Literature
Authors:
Nourah Alruqaie
, Majid Alfadhel
Article Info
Authors
Nourah Alruqaie
College of Medicine, King Saud bin Abdul-Aziz University for Health science, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia
Publication History
Received: May 04, 2018
Accepted: June 10, 2018
Published: November 30, 2018
Abstract
Background: Mitchell-Riley Syndrome (OMIM # 615710) is a rare autosomal recessive disorder, characterized by a genetic mutation in the RFX6 gene. Clinically it is presented with triad of neonatal diabetes, gall bladder agenesis/hypoplasia and intestinal atresia. Case presentation: We reported a female Saudi twin of consanguineous parents presented with neonatal diabetes, gall bladder agenesis/hypoplasia and intestinal atresia since birth who deceased at 5 months of age due to sepsis. Molecular genetics testing of RFX6 gene showed novel homozygous missense mutation; NM_173560.3: (c.983A>T; p.Asp328Val). We compared current patient to previously reported cases Conclusion: We alert the clinicians to consider this syndrome in any neonate presenting with diabetes, gallbladder agenesis, and intestinal atresia.
Keywords: diabetes, RFX6 gene, Mitchell-Riley Syndrome, gallbladder agenesis, intestinal atresia, pancreatic insufficiency
