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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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
Alruqaie N, Alfadhel M. Mitchell-Riley Syndrome Report of Novel Mutation and Review of the Literature. https://www.jbcgenetics.com//?mno=302286 [Access: March 28, 2020]. doi:10.24911/JBCGenetics/183-1529491124
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
Alruqaie N, Alfadhel M. Mitchell-Riley Syndrome Report of Novel Mutation and Review of the Literature. JBCGenetics. (2018), [cited March 28, 2020]; 1(2): 87-92. doi:10.24911/JBCGenetics/183-1529491124
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
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
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
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
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