A novel de novo mutation in the PURA gene associated with a new clinical finding: large brainstem

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dc.contributor.authorA, Mari´A Elena Rodri´Guez-Garcien_US
dc.contributor.authorCotrina-Vinagre, Francisco Javieren_US
dc.contributor.authorArranz-Canales, Elenaen_US
dc.contributor.authorArago´ N, Ana Marti´Nez Deen_US
dc.contributor.authorLaura, Herna´ Ndez-Sa´ Nchezen_US
dc.contributor.authorS, Fa´Tima Rodri´Guez-Forne´en_US
dc.contributor.authorGuez, Patricia Carnicero-Rodrien_US
dc.contributor.authorMorales-Conejo, Montserraten_US
dc.contributor.authorNdez, Elena Marti´N-Hernaen_US
dc.contributor.authorN, Francisco Marti´Nez Azorien_US
dc.date.accessioned2020-11-18T10:21:10Z
dc.date.available2020-11-18T10:21:10Z
dc.date.issued2020-01
dc.description.abstractWe report the case of a Caucasian Spanish boy, who showed profound neonatal hypotonia, feeding difficulties, apnea, severe developmental delay, epilepsy, bilateral convergent strabismus, poor verbal language development and a large brainstem. Whole-exome sequence uncovered a novel de novo mutation in the purine-rich element binding protein A gene (PURA; NM_005859.4:c.72del:p.(- Gly25AlafsTer53)) that encodes the transcriptional activator protein Pur-alpha (PURA). Mutations in this gene have been identified in patients with PURA syndrome, a rare disorder characterized by an early hypotonia, developmental delay, severe intellectual disability with or without epilepsy, and disability in expressive language development. Although, up to 75 cases have been identified worldwide, to the best of our knowledge, this is the first patient described with a brainstem larger than normal. In conclusion, our data expand both genetic and phenotypic spectrum associated with PURA gene mutations.en_US
dc.identifier.affiliationsLaboratorio de Enfermedades Mitocondriales, Instituto de Investigacio´n Hospital 12 de Octubre (i?12), 28041 Madrid, Spainen_US
dc.identifier.affiliationsLaboratorio de Enfermedades Mitocondriales, Instituto de Investigacio´n Hospital 12 de Octubre (i?12), 28041 Madrid, Spainen_US
dc.identifier.affiliationsDepartamento de Medicina Interna, Hospital 12 de Octubre, 28041 Madrid, Spainen_US
dc.identifier.affiliationsServicio de Radiologı´a, Seccio´n de Neurorradiologı´a, Hospital 12 de Octubre, 28041 Madrid, Spainen_US
dc.identifier.affiliationsLaboratorio de Enfermedades Mitocondriales, Instituto de Investigacio´n Hospital 12 de Octubre (i?12), 28041 Madrid, Spainen_US
dc.identifier.affiliationsUnidad Pedia´trica de Enfermedades Raras, Enfermedades Mitocondriales y Metabo´licas Hereditarias, Hospital 12 de Octubre, 28041 Madrid, Spainen_US
dc.identifier.affiliationsUnidad Pedia´trica de Enfermedades Raras, Enfermedades Mitocondriales y Metabo´licas Hereditarias, Hospital 12 de Octubre, 28041 Madrid, Spainen_US
dc.identifier.affiliationsLaboratorio de Enfermedades Mitocondriales, Instituto de Investigacio´n Hospital 12 de Octubre (i?12), 28041 Madrid, Spainen_US
dc.identifier.affiliationsCentro de Investigacio´n Biome´dica en Red de Enfermedades Raras (CIBERER), U723, 28041 Madrid, Spainen_US
dc.identifier.citationA Mari´A Elena Rodri´Guez-Garci, Cotrina-Vinagre Francisco Javier, Arranz-Canales Elena, Arago´ N Ana Marti´Nez De, Laura Herna´ Ndez-Sa´ Nchez , S Fa´Tima Rodri´Guez-Forne´, Guez Patricia Carnicero-Rodri, Morales-Conejo Montserrat, Ndez Elena Marti´N-Herna, N Francisco Marti´Nez Azori. A novel de novo mutation in the PURA gene associated with a new clinical finding: large brainstem. Journal of Genetics. 2020 Jan; 99: 1-5en_US
dc.identifier.issn0022-1333
dc.identifier.issn0973-7731
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/215557
dc.languageenen_US
dc.publisherIndian Academy of Sciencesen_US
dc.relation.volume99en_US
dc.source.urihttps://doi.org/10.1007/s12041-019-1165-3en_US
dc.subjectPURA geneen_US
dc.subjectwhole-exome sequenceen_US
dc.subjectbrainstemen_US
dc.subjecthypotoniaen_US
dc.subjectdevelopmental delayen_US
dc.subjectepilepsy.en_US
dc.titleA novel de novo mutation in the PURA gene associated with a new clinical finding: large brainstemen_US
dc.typeJournal Articleen_US
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