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

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 unde...

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Autores principales: Rodríguez-Jiménez, Carmen, Santos-Simarro, Fernando, Campos-Barros, Ángel, Camarena, Carmen, Lledín, Dolores, Vallespín, Elena, del Pozo, Ángela, Mena, Rocío, Lapunzina, Pablo, Rodríguez-Nóvoa, Sonia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2017
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5233919/
https://www.ncbi.nlm.nih.gov/pubmed/28116244
http://dx.doi.org/10.1016/j.ymgmr.2017.01.003
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author Rodríguez-Jiménez, Carmen
Santos-Simarro, Fernando
Campos-Barros, Ángel
Camarena, Carmen
Lledín, Dolores
Vallespín, Elena
del Pozo, Ángela
Mena, Rocío
Lapunzina, Pablo
Rodríguez-Nóvoa, Sonia
author_facet Rodríguez-Jiménez, Carmen
Santos-Simarro, Fernando
Campos-Barros, Ángel
Camarena, Carmen
Lledín, Dolores
Vallespín, Elena
del Pozo, Ángela
Mena, Rocío
Lapunzina, Pablo
Rodríguez-Nóvoa, Sonia
author_sort Rodríguez-Jiménez, Carmen
collection PubMed
description 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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spelling pubmed-52339192017-01-23 A new variant in PHKA2 is associated with glycogen storage disease type IXa Rodríguez-Jiménez, Carmen Santos-Simarro, Fernando Campos-Barros, Ángel Camarena, Carmen Lledín, Dolores Vallespín, Elena del Pozo, Ángela Mena, Rocío Lapunzina, Pablo Rodríguez-Nóvoa, Sonia Mol Genet Metab Rep Short Communication 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. Elsevier 2017-01-12 /pmc/articles/PMC5233919/ /pubmed/28116244 http://dx.doi.org/10.1016/j.ymgmr.2017.01.003 Text en © 2017 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Short Communication
Rodríguez-Jiménez, Carmen
Santos-Simarro, Fernando
Campos-Barros, Ángel
Camarena, Carmen
Lledín, Dolores
Vallespín, Elena
del Pozo, Ángela
Mena, Rocío
Lapunzina, Pablo
Rodríguez-Nóvoa, Sonia
A new variant in PHKA2 is associated with glycogen storage disease type IXa
title A new variant in PHKA2 is associated with glycogen storage disease type IXa
title_full A new variant in PHKA2 is associated with glycogen storage disease type IXa
title_fullStr A new variant in PHKA2 is associated with glycogen storage disease type IXa
title_full_unstemmed A new variant in PHKA2 is associated with glycogen storage disease type IXa
title_short A new variant in PHKA2 is associated with glycogen storage disease type IXa
title_sort new variant in phka2 is associated with glycogen storage disease type ixa
topic Short Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5233919/
https://www.ncbi.nlm.nih.gov/pubmed/28116244
http://dx.doi.org/10.1016/j.ymgmr.2017.01.003
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