Whole Exome Sequencing Identified a Novel Homozygous Arv1 Mutation in an Iranian Family With Developmental and Epileptic Encephalopathy-38

Whole Exome Sequencing Identified a Novel Homozygous Arv1 Mutation in an Iranian Family With Developmental and Epileptic Encephalopathy-38 Publisher

Esmaeilzadeh E¹ ; Bayat S² ; Mirfakhraie R³ ; Gholami M⁴

Show Affiliations

1. Fetal Health Research Center, Hope Generation Foundation, Tehran, Iran
2. Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
3. Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
4. Department of Biochemistry and Genetics, School of Medicine, Arak University of Medical Sciences, Arak, Iran

Source: Meta Gene Published:2021

Abstract

Developmental and epileptic encephalopathy-38 (DEE38) is an inherited neurodegenerative disorder described by the onset of various type of seizures usually between around 4 and 7 months of age. Mutations in the ARV1 gene have recently been described in association with DEE38. Extracted genomic DNA from blood sample was used to perform whole exome sequencing in an affected member of an Iranian family with Developmental and Epileptic Encephalopathy type 38. The mutational screening revealed a novel homozygote ARV1 gene mutation c.593_594delTT (p.Ile198MetfsTer4) in the proband. We identified a novel homozygous deletion in the ARV1 that associates with the Developmental and epileptic encephalopathy-38. © 2021 Elsevier B.V.

2. Developmental and Epileptic Encephalopathy 89: A Novel Bi-Allelic Variant, Molecular Dynamics Simulation, and a Comprehensive Clinical and Molecular Profile, Epilepsia Open (2023)

3. A Novel De Novo Frameshift Variant in the Chd2 Gene Related to Intellectual and Developmental Disability, Seizures and Speech Problems, Molecular Genetics and Genomic Medicine (2024)

4. A Novel Mettl5 Variant Disrupting a Donor Splice Site Leads to Primary Microcephaly-Related Intellectual Disability in an Iranian Family: Clinical Features and Literature Review, Journal of Genetics (2023)

5. Identification of Novel Mutations in Tpk1 and Slc19a3 Genes in Families Exhibiting Thiamine Metabolism Dysfunction Syndrome, Heliyon (2024)

6. Clinical and Genetic Profile of Children With Unexplained Intellectual Disability/Developmental Delay and Epilepsy, Epilepsy Research (2021)

7. X-Linked Mental Retardation-Hypotonic Facies Syndrome: Exome Sequencing Identifies Novel Clinical Characteristics Associated With C.5182G>C Mutation in the Atrx Gene, Molecular Genetics and Genomic Medicine (2022)

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Mohammad Amin Tabatabaiefar (4)

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Style	Citing Format
MLA	Esmaeilzadeh E, et al.. "Whole Exome Sequencing Identified a Novel Homozygous Arv1 Mutation in an Iranian Family With Developmental and Epileptic Encephalopathy-38." Meta Gene, vol. 30, no. , 2021, pp. -.
APA	Esmaeilzadeh E, Bayat S, Mirfakhraie R, Gholami M (2021). Whole Exome Sequencing Identified a Novel Homozygous Arv1 Mutation in an Iranian Family With Developmental and Epileptic Encephalopathy-38. Meta Gene, 30(), -.
Chicago	Esmaeilzadeh E, Bayat S, Mirfakhraie R, Gholami M. "Whole Exome Sequencing Identified a Novel Homozygous Arv1 Mutation in an Iranian Family With Developmental and Epileptic Encephalopathy-38." Meta Gene 30, no. (2021): -.
Harvard	Esmaeilzadeh E et al. (2021) 'Whole Exome Sequencing Identified a Novel Homozygous Arv1 Mutation in an Iranian Family With Developmental and Epileptic Encephalopathy-38', Meta Gene, 30(), pp. -.
Vancouver	Esmaeilzadeh E, Bayat S, Mirfakhraie R, Gholami M. Whole Exome Sequencing Identified a Novel Homozygous Arv1 Mutation in an Iranian Family With Developmental and Epileptic Encephalopathy-38. Meta Gene. 2021;30():-.
BibTex	@article{ author = {Esmaeilzadeh E and Bayat S and Mirfakhraie R and Gholami M}, title = {Whole Exome Sequencing Identified a Novel Homozygous Arv1 Mutation in an Iranian Family With Developmental and Epileptic Encephalopathy-38}, journal = {Meta Gene}, volume = {30}, number = {}, pages = {-}, year = {2021} }
RIS	TY - JOUR AU - Esmaeilzadeh E AU - Bayat S AU - Mirfakhraie R AU - Gholami M TI - Whole Exome Sequencing Identified a Novel Homozygous Arv1 Mutation in an Iranian Family With Developmental and Epileptic Encephalopathy-38 JO - Meta Gene VL - 30 IS - SP - EP - PY - 2021 ER -

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