Case Report

Volume: 1 | Issue: 2 | Published: Jun 10, 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

Majid Alfadhel

King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Genetic Division, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia

Publication History

Received: June 21, 2018

Accepted: July 30, 2018

Published: June 10, 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

Open access Creative Commons License

Pubmed Style

Nourah Alruqaie, Majid Alfadhel. Mitchell-Riley Syndrome Report of Novel Mutation and Review of the Literature. JBC Genetics. 2018; 10 (June 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://www.jbcgenetics.com/articles/2118 [Access: April 27, 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; 10 (June 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 April 27, 2025]; 10 (June 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, 10 (June 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." 10 (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." 10.June 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. , 10 (June 2018), 87-92. doi:10.24911/JBCGenetics/183-1529491124