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01-10-2016 | Short Communication

New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy

Authors: Elena Martín-Hernández, María Elena Rodríguez-García, Ana Camacho, Antoni Matilla-Dueñas, María Teresa García-Silva, Pilar Quijada-Fraile, Marc Corral-Juan, Pilar Tejada-Palacios, Rogelio Simón de Las Heras, Joaquín Arenas, Miguel A. Martín, Francisco Martínez-Azorín

Published in: Neurogenetics | Issue 4/2016

Abstract

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.

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Title: New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy
Authors: Elena Martín-Hernández
María Elena Rodríguez-García
Ana Camacho
Antoni Matilla-Dueñas
María Teresa García-Silva
Pilar Quijada-Fraile
Marc Corral-Juan
Pilar Tejada-Palacios
Rogelio Simón de Las Heras
Joaquín Arenas
Miguel A. Martín
Francisco Martínez-Azorín
Publication date: 01-10-2016
Publisher: Springer Berlin Heidelberg
Published in: Neurogenetics / Issue 4/2016
Print ISSN: 1364-6745
Electronic ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-016-0496-y

At a glance: The STEP trials

Springer Medicine

New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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