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.
| Published in | International Journal of Genetics and Genomics (Volume 6, Issue 1) |
| DOI | 10.11648/j.ijgg.20180601.13 |
| Page(s) | 11-17 |
| Creative Commons |
This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited. |
| Copyright |
Copyright © The Author(s), 2018. Published by Science Publishing Group |
Developmental Delay, ARFGEF2, Intellectual Disability, Myoclonic Seizure, Dystonia, Periventricular Heterotopia
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APA Style
Lina Al Neghery, Rosan Kenana, Albandary Al Bakheet, Rawan Al Mass, Faten Al Mutairi, et al. (2018). A Systematic Genetic Assessment of ARFGEF2 Mutations in Periventricular Heterotopia. International Journal of Genetics and Genomics, 6(1), 11-17. https://doi.org/10.11648/j.ijgg.20180601.13
ACS Style
Lina Al Neghery; Rosan Kenana; Albandary Al Bakheet; Rawan Al Mass; Faten Al Mutairi, et al. A Systematic Genetic Assessment of ARFGEF2 Mutations in Periventricular Heterotopia. Int. J. Genet. Genomics 2018, 6(1), 11-17. doi: 10.11648/j.ijgg.20180601.13
AMA Style
Lina Al Neghery, Rosan Kenana, Albandary Al Bakheet, Rawan Al Mass, Faten Al Mutairi, et al. A Systematic Genetic Assessment of ARFGEF2 Mutations in Periventricular Heterotopia. Int J Genet Genomics. 2018;6(1):11-17. doi: 10.11648/j.ijgg.20180601.13
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Download@article{10.11648/j.ijgg.20180601.13,
author = {Lina Al Neghery and Rosan Kenana and Albandary Al Bakheet and Rawan Al Mass and Faten Al Mutairi and Maysoon Al Sagob and Aliya Qari and Rozeena Huma and Dilek Colak and Maha Daghestani and Namik Kaya and Moeenaldeen Al Sayed},
title = {A Systematic Genetic Assessment of ARFGEF2 Mutations in Periventricular Heterotopia},
journal = {International Journal of Genetics and Genomics},
volume = {6},
number = {1},
pages = {11-17},
doi = {10.11648/j.ijgg.20180601.13},
url = {https://doi.org/10.11648/j.ijgg.20180601.13},
eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ijgg.20180601.13},
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.},
year = {2018}
}
TY - JOUR T1 - A Systematic Genetic Assessment of ARFGEF2 Mutations in Periventricular Heterotopia AU - Lina Al Neghery AU - Rosan Kenana AU - Albandary Al Bakheet AU - Rawan Al Mass AU - Faten Al Mutairi AU - Maysoon Al Sagob AU - Aliya Qari AU - Rozeena Huma AU - Dilek Colak AU - Maha Daghestani AU - Namik Kaya AU - Moeenaldeen Al Sayed Y1 - 2018/05/05 PY - 2018 N1 - https://doi.org/10.11648/j.ijgg.20180601.13 DO - 10.11648/j.ijgg.20180601.13 T2 - International Journal of Genetics and Genomics JF - International Journal of Genetics and Genomics JO - International Journal of Genetics and Genomics SP - 11 EP - 17 PB - Science Publishing Group SN - 2376-7359 UR - https://doi.org/10.11648/j.ijgg.20180601.13 AB - 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. VL - 6 IS - 1 ER -
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