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New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy
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New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy
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Journal Article
New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy
2016
Overview
We report the clinical and biochemical findings from two unrelated patients who presented with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy. Whole exome sequencing (WES) uncovered a homozygous mutation in the
ATP8A2
gene (NM_016529:c.1287G > T, p.K429N) in one patient and compound heterozygous mutations (c.1630G > C, p.A544P and c.1873C > T, p.R625W) in the other. Only one haploinsufficiency case and a family with a homozygous mutation in
ATP8A2
gene (c.1128C > G, p.I376M) have been described so far, with phenotypes that differed slightly from the patients described herein. In conclusion, our data expand both the genetic and phenotypic spectrum associated with
ATP8A2
gene mutations.
Publisher
Springer Berlin Heidelberg,Springer Nature B.V
Subject
Adenosine Triphosphatases - genetics
/ Biomedical and Life Sciences
/ Brain Diseases - complications
/ Child
/ Female
/ Genes
/ Humans
/ Intellectual Disability - complications
/ Intellectual Disability - genetics
/ Muscle Hypotonia - complications
/ Mutation
/ Optic Atrophy - complications
/ Pedigree
/ Phospholipid Transfer Proteins - genetics
/ Syndrome
