Volume 6, Issue 1, March 2018, Page: 11-17
A Systematic Genetic Assessment of ARFGEF2 Mutations in Periventricular Heterotopia
Lina Al Neghery, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia; Department of Zoology, College of Science, King Saud University, Riyadh, Kingdom of Saudi Arabia
Rosan Kenana, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia
Albandary Al Bakheet, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia
Rawan Al Mass, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia
Faten Al Mutairi, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia
Maysoon Al Sagob, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia
Aliya Qari, Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia
Rozeena Huma, Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia
Dilek Colak, Department of Biostatistics, Epidemiology and Scientific Computing, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia
Maha Daghestani, Department of Zoology, College of Science, King Saud University, Riyadh, Kingdom of Saudi Arabia
Namik Kaya, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia
Moeenaldeen Al Sayed, Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia
Received: Jan. 12, 2018;       Accepted: Jan. 29, 2018;       Published: May 5, 2018
DOI: 10.11648/j.ijgg.20180601.13      View  1062      Downloads  43
Abstract
Mutations in ADP-ribosylation factor guanine nucleotide-exchange factor 2 (ARFGEF2) lead to autosomal recessive periventricular heterotopia (PH). To date, 11 mutations, (six missense mutations, one splicing mutation, one small deletion, two small insertions, and one small deletion/insertion) have been reported. Assessing ARFGEF2 mutations will provide a holistic overview of PH. This retrospective study was conducted in 2016 at King Faisal Specialist Hospital and Research Center. For the index patient, magnetic resonance imaging studies revealed a symmetrical focal hyperintensity involving the putamen bilaterally and the inner aspect of the globus pallidus. After family members were genotyped, an autozygosity analysis was performed, followed by exome sequencing of the index patient; A comprehensive filtering approach based on the loss of heterozygosity (LOH) was used to identify variants in phenotypically relevant genes. We report a consanguineous family with two affected individuals, a boy and a girl, with a history of microcephaly, global developmental delay, intellectual disability, myoclonic seizure, and dystonia. The patients carried a novel nonsense mutation (c.3974G>A, p. Trp1325*) in the Armadillo-type fold domain of ARFGEF2. These findings extend our understanding of the phenotype–genotype correlations for ARFGEF2 mutations.
Keywords
Developmental Delay, ARFGEF2, Intellectual Disability, Myoclonic Seizure, Dystonia, Periventricular Heterotopia
To cite this article
Lina Al Neghery, Rosan Kenana, Albandary Al Bakheet, Rawan Al Mass, Faten Al Mutairi, Maysoon Al Sagob, Aliya Qari, Rozeena Huma, Dilek Colak, Maha Daghestani, Namik Kaya, Moeenaldeen Al Sayed, A Systematic Genetic Assessment of ARFGEF2 Mutations in Periventricular Heterotopia, International Journal of Genetics and Genomics. Vol. 6, No. 1, 2018, pp. 11-17. doi: 10.11648/j.ijgg.20180601.13
Copyright
Copyright © 2018 Authors retain the copyright of this article.
This article is an open access article distributed under the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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