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

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. [JBCGenetics 2018; 1(1.000): 40-42]

Keywords

• case report
• arfgef2 gene
• microcephaly
• periventricular nodular heterotopia
• putamen