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
© Copyright: Author(s)
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
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 28, 2023]. doi:10.24911/JBCGenetics/183-1531469195
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
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 28, 2023]; 1(1): 40-42. doi:10.24911/JBCGenetics/183-1531469195
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
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
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
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
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