A new variant in PHKA2 is associated with glycogen storage disease type IXa.
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ABSTRACT:
SUBMITTER: Rodriguez-Jimenez C
PROVIDER: S-EPMC5233919 | biostudies-literature | 2017 Mar
REPOSITORIES: biostudies-literature
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A new variant in <i>PHKA2</i> is associated with glycogen storage disease type IXa.
Rodríguez-Jiménez Carmen C Santos-Simarro Fernando F Campos-Barros Ángel Á Camarena Carmen C Lledín Dolores D Vallespín Elena E Del Pozo Ángela Á Mena Rocío R Lapunzina Pablo P Rodríguez-Nóvoa Sonia S
Molecular genetics and metabolism reports 20170112
Glucogenosis type IX is caused by pathogenic variants of the <i>PHKA2</i> gene. Herein, we report a patient with clinical symptoms compatible with Glycogen Storage Disease type IXa. <i>PYGL</i>, <i>PHKA1</i>, <i>PHKA2</i>, <i>PHKB</i> and <i>PHKG2</i> genes were analyzed by Next Generation Sequencing (NGS). We identified the previously undescribed hemizygous missense variant NM_000292.2(PHKA2):c.1963G > A, p.(Glu655Lys) in <i>PHKA2</i> exon 18. <i>In silico</i> analyses showed two possible patho ...[more]
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