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- Title
A Novel Homozygous ATP8A2 Variant in a Patient With Phenotypic Features of Dysequilibrium Syndrome.
- Authors
Saghazadeh, Amene; Tonekaboni, Seyed Hassan; Najmabadi, Hossein; Rezaei, Nima
- 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 threeyear- 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.
- Subjects
IRAN; SPEECH; PROTEINS; DEVELOPMENTAL delay; CHROMOSOMAL translocation; SYNDROMES
- Publication
Acta Medica Iranica, 2018, Vol 56, Issue 10, p677
- ISSN
0044-6025
- Publication type
Article