Case Report
JBCGenetics. 2018; 1(2): 87-92

Mitchell-Riley Syndrome Report of Novel Mutation and Review of the Literature

Authors: Nourah Alruqaie, Majid Alfadhel.

View PDF HTML Fulltext DOI: 10.24911/JBCGenetics/183-1529491124

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


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Mitchell-Riley Syndrome Report of Novel Mutation and Review of the Literature


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
PubMed articlesGoogle scholar articles

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
PubMed articlesGoogle scholar articles


Correspondence to:
Majid Alfadhel. Majid Alfadhel, MD, MHSc, FCCMG; dralfadhelm@gmail.com

Publication history
Published online 01 Jan 1970
Received 21 Jun 2018
Revised 20 Jul 2018
Accepted 30 Jul 2018
Published in print 09 Mar 2019

How to cite this article

Pubmed Style

Alruqaie N, Alfadhel M. Mitchell-Riley Syndrome Report of Novel Mutation and Review of the Literature. JBCGenetics. 2018; 1(2): 87-92. doi:10.24911/JBCGenetics/183-1529491124


Web Style

Alruqaie N, Alfadhel M. Mitchell-Riley Syndrome Report of Novel Mutation and Review of the Literature. https://www.jbcgenetics.com//?mno=302286 [Access: August 23, 2019]. doi:10.24911/JBCGenetics/183-1529491124


AMA (American Medical Association) Style

Alruqaie N, Alfadhel M. Mitchell-Riley Syndrome Report of Novel Mutation and Review of the Literature. JBCGenetics. 2018; 1(2): 87-92. doi:10.24911/JBCGenetics/183-1529491124


Vancouver/ICMJE Style

Alruqaie N, Alfadhel M. Mitchell-Riley Syndrome Report of Novel Mutation and Review of the Literature. JBCGenetics. (2018), [cited August 23, 2019]; 1(2): 87-92. doi:10.24911/JBCGenetics/183-1529491124


Harvard Style

Alruqaie, N. & Alfadhel, . M. (2018) Mitchell-Riley Syndrome Report of Novel Mutation and Review of the Literature. JBCGenetics, 1 (2), 87-92. doi:10.24911/JBCGenetics/183-1529491124


Turabian Style

Alruqaie, Nourah, and Majid Alfadhel. 2018. Mitchell-Riley Syndrome Report of Novel Mutation and Review of the Literature. Journal of Biochemical and Clinical Genetics, 1 (2), 87-92. doi:10.24911/JBCGenetics/183-1529491124


Chicago Style

Alruqaie, Nourah, and Majid Alfadhel. "Mitchell-Riley Syndrome Report of Novel Mutation and Review of the Literature." Journal of Biochemical and Clinical Genetics 1 (2018), 87-92. doi:10.24911/JBCGenetics/183-1529491124


MLA (The Modern Language Association) Style

Alruqaie, Nourah, and Majid Alfadhel. "Mitchell-Riley Syndrome Report of Novel Mutation and Review of the Literature." Journal of Biochemical and Clinical Genetics 1.2 (2018), 87-92. Print. doi:10.24911/JBCGenetics/183-1529491124


APA (American Psychological Association) Style

Alruqaie, N. & Alfadhel, . M. (2018) Mitchell-Riley Syndrome Report of Novel Mutation and Review of the Literature. Journal of Biochemical and Clinical Genetics, 1 (2), 87-92. doi:10.24911/JBCGenetics/183-1529491124


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