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 orcid logo


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

Majid Alfadhel

King Abdullah International Medical Research Centre, Riyadh, Saudi Arabia

orcid logo ORCID

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


Pubmed Style

Nourah Alruqaie, Majid Alfadhel. Mitchell-Riley Syndrome Report of Novel Mutation and Review of the Literature. JBC Genetics. 2018; 30 (November 2018): 87-92. doi:10.24911/JBCGenetics/183-1529491124

Web Style

Nourah Alruqaie, Majid Alfadhel. Mitchell-Riley Syndrome Report of Novel Mutation and Review of the Literature. https://jbcgenetics.com/articles/2118 [Access: June 02, 2025]. doi:10.24911/JBCGenetics/183-1529491124

AMA (American Medical Association) Style

Nourah Alruqaie, Majid Alfadhel. Mitchell-Riley Syndrome Report of Novel Mutation and Review of the Literature. JBC Genetics. 2018; 30 (November 2018): 87-92. doi:10.24911/JBCGenetics/183-1529491124

Vancouver/ICMJE Style

Nourah Alruqaie, Majid Alfadhel. Mitchell-Riley Syndrome Report of Novel Mutation and Review of the Literature. JBC Genetics. (2018), [cited June 02, 2025]; 30 (November 2018): 87-92. doi:10.24911/JBCGenetics/183-1529491124

Harvard Style

Nourah Alruqaie, Majid Alfadhel (2018) Mitchell-Riley Syndrome Report of Novel Mutation and Review of the Literature. JBC Genetics, 30 (November 2018): 87-92. doi:10.24911/JBCGenetics/183-1529491124

Chicago Style

Nourah Alruqaie, Majid Alfadhel. "Mitchell-Riley Syndrome Report of Novel Mutation and Review of the Literature." 30 (2018), 87-92. doi:10.24911/JBCGenetics/183-1529491124

MLA (The Modern Language Association) Style

Nourah Alruqaie, Majid Alfadhel. "Mitchell-Riley Syndrome Report of Novel Mutation and Review of the Literature." 30.November 2018 (2018), 87-92. Print. doi:10.24911/JBCGenetics/183-1529491124

APA (American Psychological Association) Style

Nourah Alruqaie, Majid Alfadhel (2018) Mitchell-Riley Syndrome Report of Novel Mutation and Review of the Literature. , 30 (November 2018), 87-92. doi:10.24911/JBCGenetics/183-1529491124