A new variant in PHKA2 is associated with glycogen storage disease type IXa
2017
Carmen Rodríguez-Jiménez | Fernando Santos-Simarro | Ángel Campos-Barros | Carmen Camarena | Dolores Lledín | Elena Vallespín | Ángela del Pozo | Rocío Mena | Pablo Lapunzina | Sonia Rodríguez-Nóvoa
Glucogenosis type IX is caused by pathogenic variants of the PHKA2 gene. Herein, we report a patient with clinical symptoms compatible with Glycogen Storage Disease type IXa. PYGL, PHKA1, PHKA2, PHKB and PHKG2 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 PHKA2 exon 18. In silico analyses 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.
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