E-ISSN 1658-8088 | ISSN 1658-807X
 

Case Report
Online Published: 10 Jun 2018
 


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

Nourah Alruqaie, Majid Alfadhel.


Cited By: 2

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.

Key words: diabetes, RFX6 gene, Mitchell-Riley Syndrome, gallbladder agenesis, intestinal atresia, pancreatic insufficiency


 
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This Article Cited By the following articles

Congenital Glucagon-like Peptide-1 Deficiency in the Pathogenesis of Protracted Diarrhea in Mitchell–Riley Syndrome
2020; (): .

1
 
Congenital Glucagon-like Peptide-1 Deficiency in the Pathogenesis of Protracted Diarrhea in Mitchell–Riley Syndrome
2021; 106(4): 1084.

2
 
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: November 14, 2024]. 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 November 14, 2024]; 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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