E-ISSN 1658-8088 | ISSN 1658-807X
 

Case Report 


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.


Abstract
Background: Periventricular nodular heterotopia, a common form of neuronal heterotopia, is heterogeneous in etiology. Recessive mutations in ARFGEF2 causing microcephaly and periventricular heterotopia have rarely been reported.
Case Presentation: We report two Saudi siblings with a homozygous ARFGEF2 mutation (c.958 + 1G > A) presenting with microcephaly, dyskinetic movements, seizures, and a distinct brain magnetic resonance imaging pattern, describing the genotype and radiology phenotype correlation.
Conclusion: We speculate that the involvement of the putamen may be a key under recognized feature of ARFGEF2 mutations.

Key words: Case report, ARFGEF2 gene, microcephaly, periventricular nodular heterotopia, putamen


 
ARTICLE TOOLS
Abstract
PDF Fulltext
How to cite this articleHow to cite this article
Citation Tools
Related Records
 Articles by Maram Alojair
Articles by Abdulaziz Alghamdi
Articles by Kalthoum Tlili
Articles by Sateesh Maddirevula
Articles by Fowzan Sami Alkuraya
Articles by Brahim Tabarki
on Google
on Google Scholar


How to Cite this Article
Pubmed Style

Alojair M, Alghamdi A, Tlili K, Maddirevula S, Alkuraya FS, Tabarki B. Recessive ARFGEF2 mutation causes progressive microcephaly, epilepsy, and a distinct MRI pattern. JBCGenetics. 2018; 1(1): 40-42. doi:10.24911/JBCGenetics/183-1531469195


Web Style

Alojair M, Alghamdi A, Tlili K, Maddirevula S, Alkuraya FS, Tabarki B. Recessive ARFGEF2 mutation causes progressive microcephaly, epilepsy, and a distinct MRI pattern. https://www.jbcgenetics.com/?mno=667 [Access: March 13, 2024]. doi:10.24911/JBCGenetics/183-1531469195


AMA (American Medical Association) Style

Alojair M, Alghamdi A, Tlili K, Maddirevula S, Alkuraya FS, Tabarki B. Recessive ARFGEF2 mutation causes progressive microcephaly, epilepsy, and a distinct MRI pattern. JBCGenetics. 2018; 1(1): 40-42. doi:10.24911/JBCGenetics/183-1531469195



Vancouver/ICMJE Style

Alojair M, Alghamdi A, Tlili K, Maddirevula S, Alkuraya FS, Tabarki B. Recessive ARFGEF2 mutation causes progressive microcephaly, epilepsy, and a distinct MRI pattern. JBCGenetics. (2018), [cited March 13, 2024]; 1(1): 40-42. doi:10.24911/JBCGenetics/183-1531469195



Harvard Style

Alojair, M., Alghamdi, . A., Tlili, . K., Maddirevula, . S., Alkuraya, . F. S. & Tabarki, . B. (2018) Recessive ARFGEF2 mutation causes progressive microcephaly, epilepsy, and a distinct MRI pattern. JBCGenetics, 1 (1), 40-42. doi:10.24911/JBCGenetics/183-1531469195



Turabian Style

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



Chicago Style

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



MLA (The Modern Language Association) Style

Alojair, Maram, Abdulaziz Alghamdi, Kalthoum Tlili, Sateesh Maddirevula, Fowzan Sami Alkuraya, and Brahim Tabarki. "Recessive ARFGEF2 mutation causes progressive microcephaly, epilepsy, and a distinct MRI pattern." Journal of Biochemical and Clinical Genetics 1.1 (2018), 40-42. Print. doi:10.24911/JBCGenetics/183-1531469195



APA (American Psychological Association) Style

Alojair, M., Alghamdi, . A., Tlili, . K., Maddirevula, . S., Alkuraya, . F. S. & Tabarki, . B. (2018) Recessive ARFGEF2 mutation causes progressive microcephaly, epilepsy, and a distinct MRI pattern. Journal of Biochemical and Clinical Genetics, 1 (1), 40-42. doi:10.24911/JBCGenetics/183-1531469195





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]