A Novel Homozygous Atp8a2 Variant in a Patient With Phenotypic Features of Dysequilibrium Syndrome

A Novel Homozygous Atp8a2 Variant in a Patient With Phenotypic Features of Dysequilibrium Syndrome

Saghazadeh A^{1, 2} ; Tonekaboni SH³ ; Najmabadi H^{4, 5} ; Rezaei N^{1, 6, 7}

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1. Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
2. Meta Cognition Interest Group (MCIG), Universal Scientific Education and Research Network (USERN), Tehran, Iran
3. Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran
4. Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Evin, Tehran, Iran
5. Kariminejad-Najmabaadi Pathology and Genetics Laboratory, Tehran, Iran
6. Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
7. Systematic Review and Meta-Analysis Expert Group (SRMEG), Universal Scientific Education and Research Network (USERN), Tehran, Iran

Source: Acta Medica Iranica Published:2018

Abstract

The ATP8A2 protein is mainly located in the brain and takes part in the lipid flipping process. Mutations in the ATP8A2 gene and chromosomal translocations that interfere with the ATP8A2 gene product have been reported in association with global developmental delay and hypotonia. Here, we will report a three-year-old male presented with major phenotypic features of dysequilibrium syndrome (DES), including severe hypotonia, global developmental delay, speech problem, and strabismus. Whole exome sequencing revealed a homozygous in-frame deletion in the ATP8A2 gene (c.1286_1288delAGA, p.Lys429del). This ATP8A2 variant has not been reported yet and seems to be linked to the phenotypic features of dysequilibrium syndrome. © 2018 Tehran University of Medical Sciences. All rights reserved.

Style	Citing Format
MLA	Saghazadeh A, et al.. "A Novel Homozygous Atp8a2 Variant in a Patient With Phenotypic Features of Dysequilibrium Syndrome." Acta Medica Iranica, vol. 56, no. 10, 2018, pp. 677-680.
APA	Saghazadeh A, Tonekaboni SH, Najmabadi H, Rezaei N (2018). A Novel Homozygous Atp8a2 Variant in a Patient With Phenotypic Features of Dysequilibrium Syndrome. Acta Medica Iranica, 56(10), 677-680.
Chicago	Saghazadeh A, Tonekaboni SH, Najmabadi H, Rezaei N. "A Novel Homozygous Atp8a2 Variant in a Patient With Phenotypic Features of Dysequilibrium Syndrome." Acta Medica Iranica 56, no. 10 (2018): 677-680.
Harvard	Saghazadeh A et al. (2018) 'A Novel Homozygous Atp8a2 Variant in a Patient With Phenotypic Features of Dysequilibrium Syndrome', Acta Medica Iranica, 56(10), pp. 677-680.
Vancouver	Saghazadeh A, Tonekaboni SH, Najmabadi H, Rezaei N. A Novel Homozygous Atp8a2 Variant in a Patient With Phenotypic Features of Dysequilibrium Syndrome. Acta Medica Iranica. 2018;56(10):677-680.
BibTex	@article{ author = {Saghazadeh A and Tonekaboni SH and Najmabadi H and Rezaei N}, title = {A Novel Homozygous Atp8a2 Variant in a Patient With Phenotypic Features of Dysequilibrium Syndrome}, journal = {Acta Medica Iranica}, volume = {56}, number = {10}, pages = {677-680}, year = {2018} }
RIS	TY - JOUR AU - Saghazadeh A AU - Tonekaboni SH AU - Najmabadi H AU - Rezaei N TI - A Novel Homozygous Atp8a2 Variant in a Patient With Phenotypic Features of Dysequilibrium Syndrome JO - Acta Medica Iranica VL - 56 IS - 10 SP - 677 EP - 680 PY - 2018 ER -

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