A Novel Homozygous ATP8A2 Variant in a Patient With Phenotypic Features of Dysequilibrium Syndrome

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Saghazadeh Amene; TONEKABONI SEYED HASSAN; NAJMABADI HOSSEIN; REZAEI NIMA

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Journal Paper

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Journal: ACTA MEDICA IRANICA Year:2018 | Volume:56 | Issue:10 Page(s): 677-680

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Information Journal Paper

Title

A Novel Homozygous ATP8A2 Variant in a Patient With Phenotypic Features of Dysequilibrium Syndrome

Author(s)

Saghazadeh Amene | TONEKABONI SEYED HASSAN | NAJMABADI HOSSEIN | REZAEI NIMA | Issue Writer Certificate

Keywords

Dysequilibrium syndrome type 4

Case report

Whole exome sequencing

ATP8A2 gene

Iran

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.

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APA: Copy

Saghazadeh, Amene, TONEKABONI, SEYED HASSAN, & NAJMABADI, HOSSEIN. (2018). A Novel Homozygous ATP8A2 Variant in a Patient With Phenotypic Features of Dysequilibrium Syndrome. ACTA MEDICA IRANICA, 56(10), 677-680. SID. https://sid.ir/paper/279041/en

Vancouver: Copy

Saghazadeh Amene, TONEKABONI SEYED HASSAN, NAJMABADI HOSSEIN. A Novel Homozygous ATP8A2 Variant in a Patient With Phenotypic Features of Dysequilibrium Syndrome. ACTA MEDICA IRANICA[Internet]. 2018;56(10):677-680. Available from: https://sid.ir/paper/279041/en

IEEE: Copy

Amene Saghazadeh, SEYED HASSAN TONEKABONI, and HOSSEIN NAJMABADI, “A Novel Homozygous ATP8A2 Variant in a Patient With Phenotypic Features of Dysequilibrium Syndrome,” ACTA MEDICA IRANICA, vol. 56, no. 10, pp. 677–680, 2018, [Online]. Available: https://sid.ir/paper/279041/en

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