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. 2016 Oct;17(4):259-263.
doi: 10.1007/s10048-016-0496-y. Epub 2016 Sep 28.

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

Elena Martín-Hernández  1   2 , María Elena Rodríguez-García  3 , Ana Camacho  4 , Antoni Matilla-Dueñas  5 , María Teresa García-Silva  1   2   6 , Pilar Quijada-Fraile  1 , Marc Corral-Juan  5 , Pilar Tejada-Palacios  7 , Rogelio Simón de Las Heras  4 , Joaquín Arenas  3   6 , Miguel A Martín  3   6 , Francisco Martínez-Azorín  8   9
Affiliations

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

Elena Martín-Hernández et al. Neurogenetics. 2016 Oct.

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.

Keywords: ATP8A2; Chorea; Encephalopathy; Optic atrophy; Severe hypotonia; Wes.

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