A Novel Homozygous ATP8A2 Variant in a Patient With Phenotypic Features of Dysequilibrium Syndrome
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 repo...
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Tehran University of Medical Sciences
2019-01-01
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| Series: | Acta Medica Iranica |
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| Online Access: | https://acta.tums.ac.ir/index.php/acta/article/view/7153 |
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doaj-c712f60a7b8a48d89264f242a55a28b62020-11-25T03:40:09ZengTehran University of Medical SciencesActa Medica Iranica0044-60251735-96942019-01-015610A Novel Homozygous ATP8A2 Variant in a Patient With Phenotypic Features of Dysequilibrium SyndromeAmene Saghazadeh0Seyed Hassan Tonekaboni1Hossein Najmabadi2Nima Rezaei3Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. AND Meta Cognition Interest Group (MCIG), Universal Scientific Education and Research Network (USERN), Tehran, IranPediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Evin, Tehran, Iran. AND Kariminejad-Najmabaadi Pathology and Genetics Laboratory, Tehran, Iran.Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. AND Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. AND Systematic Review and Meta-Analysis Expert Group (SRMEG), Universal Scientific Education and Research Network (USERN), Tehran, Iran. 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. https://acta.tums.ac.ir/index.php/acta/article/view/7153Dysequilibrium syndrome type 4Case reportWhole exome sequencingATP8A2 geneIran |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Amene Saghazadeh Seyed Hassan Tonekaboni Hossein Najmabadi Nima Rezaei |
| spellingShingle |
Amene Saghazadeh Seyed Hassan Tonekaboni Hossein Najmabadi Nima Rezaei A Novel Homozygous ATP8A2 Variant in a Patient With Phenotypic Features of Dysequilibrium Syndrome Acta Medica Iranica Dysequilibrium syndrome type 4 Case report Whole exome sequencing ATP8A2 gene Iran |
| author_facet |
Amene Saghazadeh Seyed Hassan Tonekaboni Hossein Najmabadi Nima Rezaei |
| author_sort |
Amene Saghazadeh |
| title |
A Novel Homozygous ATP8A2 Variant in a Patient With Phenotypic Features of Dysequilibrium Syndrome |
| title_short |
A Novel Homozygous ATP8A2 Variant in a Patient With Phenotypic Features of Dysequilibrium Syndrome |
| title_full |
A Novel Homozygous ATP8A2 Variant in a Patient With Phenotypic Features of Dysequilibrium Syndrome |
| title_fullStr |
A Novel Homozygous ATP8A2 Variant in a Patient With Phenotypic Features of Dysequilibrium Syndrome |
| title_full_unstemmed |
A Novel Homozygous ATP8A2 Variant in a Patient With Phenotypic Features of Dysequilibrium Syndrome |
| title_sort |
novel homozygous atp8a2 variant in a patient with phenotypic features of dysequilibrium syndrome |
| publisher |
Tehran University of Medical Sciences |
| series |
Acta Medica Iranica |
| issn |
0044-6025 1735-9694 |
| publishDate |
2019-01-01 |
| description |
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.
|
| topic |
Dysequilibrium syndrome type 4 Case report Whole exome sequencing ATP8A2 gene Iran |
| url |
https://acta.tums.ac.ir/index.php/acta/article/view/7153 |
| work_keys_str_mv |
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