Next Article in Journal
Landscape of Germline Mutations in DNA Repair Genes for Breast Cancer in Latin America: Opportunities for PARP-Like Inhibitors and Immunotherapy
Previous Article in Journal
miR2Diabetes: A Literature-Curated Database of microRNA Expression Patterns, in Diabetic Microvascular Complications
Open AccessArticle

A Novel Missense Variant Associated with A Splicing Defect in A Myopathic Form of PGK1 Deficiency in The Spanish Population

1
Department of Medical Genetics, Complejo Hospitalario de Navarra, IdiSNA, Navarra Institute for Health Research, 31008 Pamplona, Spain, [email protected] (M.A.R.-A.)
2
Laboratorio de Enfermedades Mitocondriales y Neurometabólicas. Instituto de Investigación Hospital 12 de Octubre, 28041 Madrid, Spain, [email protected] (P.S.-L.)
3
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28041 Madrid, Spain
4
Department of Neurology, Complejo Hospitalario de Navarra, IdiSNA (Navarra Institute for Health Research), 31008 Pamplona, Spain, [email protected] (I.P.-L.)
*
Author to whom correspondence should be addressed.
Equally contribution.
Genes 2019, 10(10), 785; https://doi.org/10.3390/genes10100785
Received: 13 September 2019 / Revised: 4 October 2019 / Accepted: 8 October 2019 / Published: 10 October 2019
Phosphoglycerate kinase (PGK)1 deficiency is an X-linked inherited disease associated with different clinical presentations, sometimes as myopathic affectation without hemolytic anemia. We present a 40-year-old male with a mild psychomotor delay and mild mental retardation, who developed progressive exercise intolerance, cramps and sporadic episodes of rhabdomyolysis but no hematological features. A genetic study was carried out by a next-generation sequencing (NGS) panel of 32 genes associated with inherited metabolic myopathies. We identified a missense variant in the PGK1 gene c.1114G > A (p.Gly372Ser) located in the last nucleotide of exon 9. cDNA studies demonstrated abnormalities in mRNA splicing because this change abolishes the exon 9 donor site. This novel variant is the first variant associated with a myopathic form of PGK1 deficiency in the Spanish population. View Full-Text
Keywords: phosphoglycerate kinase 1 gene (PGK1); PGK1 deficiency; myopathic form; missense variant; abnormalities in mRNA splicing phosphoglycerate kinase 1 gene (PGK1); PGK1 deficiency; myopathic form; missense variant; abnormalities in mRNA splicing
Show Figures

Figure 1

MDPI and ACS Style

Garcia-Solaesa, V.; Serrano-Lorenzo, P.; Ramos-Arroyo, M.A.; Blázquez, A.; Pagola-Lorz, I.; Artigas-López, M.; Arenas, J.; Martín, M.A.; Jericó-Pascual, I. A Novel Missense Variant Associated with A Splicing Defect in A Myopathic Form of PGK1 Deficiency in The Spanish Population. Genes 2019, 10, 785.

Show more citation formats Show less citations formats
Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Article Access Map by Country/Region

1
Back to TopTop