title: A new variant inPHKA2is associated with glycogen storage disease type IXa.
abstract: Glucogenosis type IX is caused by pathogenic variants of thePHKA2gene. Herein, we report a patient with clinical symptoms compatible with Glycogen Storage Disease type IXa.PYGL,PHKA1,PHKA2,PHKBandPHKG2genes were analyzed by Next Generation Sequencing (NGS). We identified the previously undescribed hemizygous missense variant NM_000292.2(PHKA2):c.1963G > A, p.(Glu655Lys) inPHKA2exon 18.In silicoanalyses showed two possible pathogenic consequences: it affects a highly conserved amino acid and disrupts the exon 18 canonical splice donor site. The variant was found as a "de novo" event.
authors.affiliation: Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain.
authors.forename: Carmen
authors.initials: C
authors.lastname: Rodríguez-Jiménez
authors.affiliation: Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER, U753), Instituto Carlos III, Madrid, Spain.
authors.forename: Fernando
authors.initials: F
authors.lastname: Santos-Simarro
authors.affiliation: Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER, U753), Instituto Carlos III, Madrid, Spain.
authors.forename: Ángel
authors.initials: Á
authors.lastname: Campos-Barros
authors.affiliation: Hepatology Unit, Hospital Universitario La Paz, Madrid, Spain.
authors.forename: Carmen
authors.initials: C
authors.lastname: Camarena
authors.affiliation: Hepatology Unit, Hospital Universitario La Paz, Madrid, Spain.
authors.forename: Dolores
authors.initials: D
authors.lastname: Lledín
authors.affiliation: Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER, U753), Instituto Carlos III, Madrid, Spain.
authors.forename: Elena
authors.initials: E
authors.lastname: Vallespín
authors.affiliation: Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER, U753), Instituto Carlos III, Madrid, Spain.
authors.forename: Ángela
authors.initials: Á
authors.lastname: Del Pozo
authors.affiliation: Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain.
authors.forename: Rocío
authors.initials: R
authors.lastname: Mena
authors.affiliation: Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER, U753), Instituto Carlos III, Madrid, Spain.
authors.forename: Pablo
authors.initials: P
authors.lastname: Lapunzina
authors.affiliation: Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain.
authors.forename: Sonia
authors.initials: S
authors.lastname: Rodríguez-Nóvoa