Acta Scientific Clinical Case Reports

Case Report Volume 2 Issue 2

Correlation between ARV1 Mutation and Early Infantile Epileptic Encephalopathy: A Second Case Worldwide

Chadi AL Alam1*, Farah Rida2, Raëd Farhat3 and Véronique Ladeveze4

1Pediatric and Pediatric Neurologist, Haykel Hospital, Tripoli, Lebanon
2Faculty of Medical Sciences, Lebanese University, Beirut, Lebanon
3Laboratory Sciences, Faculty of Public Health, Lebanese University, Saida, Lebanon
4EA 3808, Pôle Biologie Santé, Faculté des Sciences Fondamentales et Appliquées, Université de Poitiers, France

*Corresponding Author: Chadi AL Alam, Pediatric and Pediatric Neurologist, Haykel Hospital, Tripoli, Lebanon.

Received: January 07, 2021; Published: January 28, 2021

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Abstract

Early infantile epileptic encephalopathy (EIEE) syndrome occurs during early infancy, up to 3 months of age, and typically within the first 2 weeks. Previous data link EIEE-38 in humans to a deficiency of the ARV1 gene (ACAT related enzyme 2 required for viability 1; ACAT for Acyl-CoA:cholesterol acyltransferases). ARV1 is needed in sphingolipid metabolism and implies an important role for ARV1 in lipid/membrane homeostasis. Here we report the second case worldwide of ARV1 c.294+1G>A in a Lebanese infant (a homozygous girl diagnosed at the age of one year) inducing EIEE type 38. This severe phenotype is explained by the exon 2 skipping that encodes 40 amino acids in N-terminal zinc-binding motif in the AHD (the conserved ARV1 homology domain). By comparing the phenotypes of these In 2 individuals, we noticed almost identical phenotypes with some differences regarding the ophthalmic exam and the brain MRI (Table 1). However, these differences result most probably from genotypic or environmental elements that are not related to the intronic mutation itself.

Keywords: Early Infantile Epileptic Encephalopathy (EIEE); ARV1; Magnetic Resonance Imaging (MRI)

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References

  1. Ohtahara S. “Seizure disorders in infancy and childhood”. Brain and Development 6 (1984): 509-519.
  2. McTague A., et al. “The genetic landscape of the epileptic encephalopathies of infancy and childhood”. Lancet Neurology 15 (2016): 304-316.
  3. Fusco L., et al. “Video-EEG aspects of early-infantile epileptic encephalopathy with suppression-bursts (Ohtahara syndrome)”. Brain and Development 23 (2001): 708-714.
  4. Palmer EE., et al. “Neuronal Deficiency of ARV1 Causes an Autosomal Recessive Epileptic Encephalopathy”. Human Molecular Genetics 25 (2016): 3042-3054.
  5. Davids M., et al. “Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency”. Molecular Genetics and Metabolism 1 (2020): 49-57.
  6. Alazami AM., et al. “Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families”. Cell Report 10 (2015): 148-161.
  7. Ohtahara S., et al. “On the specific age-dependent epileptic syndromes: The early-infantile epileptic encephalopathy with suppression-burst”. No To Hattatsu 8 (1976): 270e80.
  8. Ohtahara S. “Clinico-electrical delineation of epileptic encephalopathies in childhood”. Asian Medical Journal 21 (1978): 499.
  9. Lagor WR., et al. “Deletion of murine ARV1 results in a lean phenotype with increased energy expenditure”. Nutrition and Diabetes 5 (2015): e 181.
  10. Rogers MA., et al. “Acyl-Coa: cholesterol acyltransferases (ACATs/SOATs) : enzymes with multiple sterols as substrates ans as activators”. The Journal of Steroid Biochemistry and Molecular Biology 151 (2015): 102-107.
  11. Tinkeleberg AH., et al. “Mutations in yeast ARV1alter intracellular sterol distribution and are complemented by human ARV1”. Journal of Biological Chemistry2 (2000): 101-113.
  12. Fores O., et al. “Arabidopsisthaliana expresses two functional isoforms of Arvp, a protein involved in the regulation of cellular lipid homeostasis”. Biochimica et Biophysica Acta 1761 (2006): 725-735.
  13. Villasmil ML., et al. “The putative lipid transporter, ARV1, is required for activating pheromone-induced MAP kinase signaling in Saccharomyces cerevisiae”. Genetics 187 (2011): 455-465.
  14. Gallo-Ebert C., et al. “ARV1 lipid transporter function is conserved between pathogenic and nonpathogenic fungi”. Fungal Genetics and Biology 49.2 (2012): 101-113.
  15. Kajiwara K., et al. “Yeast ARV1 is required for efficient delivery of an early GPI intermediate to the first mannosyltransferase during GPI assembly and controls lipid flow from the endoplasmic reticulum”. Molecular Biology of the Cell 19 (2008): 2069-2082.
  16. Eksioglu YZ., et al. “A novel mutation in the Aristaless domain of the ARX gene leads to Ohtahara syndrome, global developmental delay, and ambiguous genitalia in males and neuropsychiatric disorders in females”. Epilepsia 52 (2011): 984e92.
  17. Kato M., et al. “A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome)”. American Journal of Human Genetics 81 (2007): 361e6.
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Citation

Citation: Chadi AL Alam., et al. “Correlation between ARV1 Mutation and Early Infantile Epileptic Encephalopathy: A Second Case Worldwide". Acta Scientific Clinical Case Reports 2.2 (2021): 13-18.




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