Case Report
JBCGenetics. 2018; 1(1): 40-42

Recessive ARFGEF2 mutation causes progressive microcephaly, epilepsy, and a distinct MRI pattern

Authors: Maram Alojair, Abdulaziz Alghamdi, Kalthoum Tlili, Sateesh Maddirevula, Fowzan Sami Alkuraya, Brahim Tabarki.

View PDF HTML Fulltext DOI: 10.24911/JBCGenetics/183-1531469195

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.

Keywords:   Case report, ARFGEF2 gene, microcephaly, periventricular nodular heterotopia, putamen


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Recessive ARFGEF2 mutation causes progressive microcephaly, epilepsy, and a distinct MRI pattern


Authors
Maram Alojair
Division of Pediatric Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia
PubMed articlesGoogle scholar articles

Abdulaziz Alghamdi
Division of Pediatric Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia
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Kalthoum Tlili
Division of Neuroradiology, Department of Radiology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia
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Sateesh Maddirevula
Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
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Fowzan Sami Alkuraya
Department of Genetics, King Faisal Specialist Hospital and Research Center, and Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia
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Brahim Tabarki
Division of Pediatric Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia
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Correspondence to:
. Brahim Tabarki, Division of Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia; btabarki@hotmail.com

Publication history
Received 18 Oct 2017
Revised 02 Dec 2017
Accepted 21 Dec 2017
Published in print 01 Jan 2018

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: December 13, 2018]. 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 December 13, 2018]; 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


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