Case Report
Volume: 1 | Issue: 1 | Published: Jan 01, 1970 | Pages: 40 - 42 | DOI: 10.24911/JBCGenetics/183-1531469195
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
Article Info
Authors
Maram Alojair
Division of Pediatric Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia
Abdulaziz Alghamdi
Division of Pediatric Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia
Kalthoum Tlili
Division of Neuroradiology, Department of Radiology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia
Sateesh Maddirevula
Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
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
Brahim Tabarki
Division of Pediatric Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia
Publication History
Received: October 18, 2017
Revised: December 02, 2017
Accepted: December 21, 2017
Published: January 01, 1970
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
