A new variant in PHKA2 is associated with glycogen storage disease type IXa

Abstract

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.

DOI: 10.1016/j.ymgmr.2017.01.003

1 Figure or Table

Cite this paper

@inproceedings{RodrguezJimnez2017ANV, title={A new variant in PHKA2 is associated with glycogen storage disease type IXa}, author={Carmen Rodr{\'i}guez-Jim{\'e}nez and Fernando Santos-Simarro and {\'A}ngel Campos-Barros and Carmen Camarena and Dolores Lled{\'i}n and E Vela Vallespin and {\'A}ngela del Pozo and Roc{\'i}o Mena and P Lapunzina and Sonia Rodr{\'i}guez-N{\'o}voa}, booktitle={Molecular genetics and metabolism reports}, year={2017} }