E-ISSN 1658-8088 | ISSN 1658-807X
 

Case Report

Online Publishing Date:
10 / 06 / 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


 
ARTICLE TOOLS
Abstract
PDF Fulltext
How to cite this articleHow to cite this article
Citation Tools
Related Records
 Articles by Nourah Alruqaie
Articles by Majid Alfadhel
on Google
on Google Scholar


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: March 13, 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 March 13, 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





Most Viewed Articles
Most Accessed Articles

  • Frontonasal dysplasia: a review
    Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad
    JBCGenetics. 2018; 1(2): 66-76
    » Abstract » doi: 10.24911/JBCGenetics/183-1530765389

  • The role of C-terminal tensin-like (Cten) gene in cancer metastasis
    Saleh Alghamdi, Sarah Alkwai, Mohammad Ilyas
    JBCGenetics. 2018; 1(1): 2-9
    » Abstract » doi: 10.24911/JBCGenetics/183-1531548689

  • Clinical reassessment of post-laboratory variant call format (VCF) files
    Lamia Alsubaie, Saeed Alturki, Ali Alothaim, Ahmed Alfares
    JBCGenetics. 2018; 1(1): 31-36
    » Abstract » doi: 10.24911/JBCGenetics/183-1529928114

  • Microcephalic osteodysplastic primordial dwarfism type II and Klinefelter syndrome: report of two competing growth syndromes
    AlAnoud Al-Jarbou, Afnan Al-Turki, Suha Tashkandi, Eissa A. Faqeih
    JBCGenetics. 2018; 1(1): 37-39
    » Abstract » doi: 10.24911/JBCGenetics/183-1530040885

  • Recessive ARFGEF2 mutation causes progressive microcephaly, epilepsy, and a distinct MRI pattern
    Maram Alojair, Abdulaziz Alghamdi, Kalthoum Tlili, Sateesh Maddirevula, Fowzan Sami Alkuraya, Brahim Tabarki
    JBCGenetics. 2018; 1(1): 40-42
    » Abstract » doi: 10.24911/JBCGenetics/183-1531469195

  • Most Downloaded
    Top Downloaded Articles

  • Frontonasal dysplasia: a review
    Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad
    JBCGenetics. 2018; 1(2): 66-76
    » Abstract » doi: 10.24911/JBCGenetics/183-1530765389

  • Generation of a mouse model of Primary Hyperoxaluria Type 1 via CRISPR/Cas9 mediated gene editing
    Kimberly A Coughlan, Rajanikanth J Maganti, Andrea Frassetto, Christine M DeAntonis, meredith Wolfrom, Anne-Renee Graham, Shawn M Hillier, Steven Fortucci, Hoor Al Jandal, Sue-Jean Hong, Paloma H Giangrande, Paolo GV Martini,
    JBCGenetics. 2019; 2(1): 28-39
    » Abstract » doi: 10.24911/JBCGenetics/183-1542047633

  • Syndactyly genes and classification: a mini review
    Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Safdar Abbas
    JBCGenetics. 2018; 1(1): 10-18
    » Abstract » doi: 10.24911/JBCGenetics/183-1532177257

  • Recessive ARFGEF2 mutation causes progressive microcephaly, epilepsy, and a distinct MRI pattern
    Maram Alojair, Abdulaziz Alghamdi, Kalthoum Tlili, Sateesh Maddirevula, Fowzan Sami Alkuraya, Brahim Tabarki
    JBCGenetics. 2018; 1(1): 40-42
    » Abstract » doi: 10.24911/JBCGenetics/183-1531469195

  • Consanguinity, awareness, and genetic disorders among female university students in Riyadh, Saudi Arabia
    Hadil Alahdal, Huda Alshanbari, Hana Saud Almazroa, Sarah Majed Alayesh, Alaa Mohammad Alrhaili, Nora Alqubi, Fai Fahad Alzamil, Reem Albassam
    JBCGenetics. 2021; 4(1): 27-34
    » Abstract » doi: 10.24911/JBCGenetics/183-1601264923

  • Most Cited Articles
    Most Cited Articles

  • Frontonasal dysplasia: a review
    Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad
    JBCGenetics. 2018; 1(2): 66-76
    » Abstract » doi: 10.24911/JBCGenetics/183-1530765389
    Cited : 4 times [Click to see citing articles]

  • Syndactyly genes and classification: a mini review
    Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Safdar Abbas
    JBCGenetics. 2018; 1(1): 10-18
    » Abstract » doi: 10.24911/JBCGenetics/183-1532177257
    Cited : 4 times [Click to see citing articles]

  • Genomics in Saudi Arabia Call for Data-Sharing Policy
    Ahmed Alfares,
    JBCGenetics. 2018; 1(2): 51-52
    » Abstract » doi: 10.24911/JBCGenetics/183-1546945268
    Cited : 4 times [Click to see citing articles]

  • Consanguinity, awareness, and genetic disorders among female university students in Riyadh, Saudi Arabia
    Hadil Alahdal, Huda Alshanbari, Hana Saud Almazroa, Sarah Majed Alayesh, Alaa Mohammad Alrhaili, Nora Alqubi, Fai Fahad Alzamil, Reem Albassam
    JBCGenetics. 2021; 4(1): 27-34
    » Abstract » doi: 10.24911/JBCGenetics/183-1601264923
    Cited : 2 times [Click to see citing articles]

  • Harel-Yoon syndrome: the first case report from Saudi Arabia
    Alaa AlAyed, Manar A. Samman, Abdul Ali Peer-Zada, Mohammed Almannai
    JBCGenetics. 2020; 3(1): 22-27
    » Abstract » doi: 10.24911/JBCGenetics/183-1585816398
    Cited : 2 times [Click to see citing articles]