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dc.contributor.authorGarcía-Hernández, Juan L.
dc.contributor.authorCorchete, Luis A.
dc.contributor.authorMarcos Alcalde, Íñigo 
dc.contributor.authorGómez Puertas, Paulino
dc.contributor.authorFons, Carmen
dc.contributor.authorLazo, Pedro A.
dc.date.accessioned2022-02-18T08:48:02Z
dc.date.available2022-02-18T08:48:02Z
dc.date.issued2021
dc.identifier.issn1479-7364spa
dc.identifier.urihttp://hdl.handle.net/10641/2837
dc.description.abstractBackground Complex developmental encephalopathy syndromes might be the consequence of unknown genetic alterations that are likely to contribute to the full neurological phenotype as a consequence of pathogenic gene combinations. Methods To identify the additional genetic contribution to the neurological phenotype, we studied as a test case a boy, with a KCNQ2 exon-7 partial duplication, by single-nucleotide polymorphism (SNP) microarray to detect copy-number variations (CNVs). Results The proband presented a cerebral palsy like syndrome with a severe motor and developmental encephalopathy. The SNP array analysis detected in the proband several de novo CNVs, nine partial gene losses (LRRC55, PCDH9, NALCN, RYR3, ELAVL2, CDH13, ATP1A2, SLC17A5, ANO3), and two partial gene duplications (PCDH19, EFNA5). The biological functions of these genes are associated with ion channels such as calcium, chloride, sodium, and potassium with several membrane proteins implicated in neural cell-cell interactions, synaptic transmission, and axon guidance. Pathogenically, these functions can be associated to cerebral palsy, seizures, dystonia, epileptic crisis, and motor neuron dysfunction, all present in the patient. Conclusions Severe motor and developmental encephalopathy syndromes of unknown origin can be the result of a phenotypic convergence by combination of several genetic alterations in genes whose physiological function contributes to the neurological pathogenic mechanism.spa
dc.language.isoengspa
dc.publisherHuman Genomicsspa
dc.rightsAtribución-NoComercial-SinDerivadas 3.0 España*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/3.0/es/*
dc.subjectVariomespa
dc.subjectDystoniaspa
dc.subjectCerebral palsyspa
dc.subjectNeuromotor delayspa
dc.subjectEpilepsyspa
dc.titlePathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome.spa
dc.typejournal articlespa
dc.type.hasVersionAMspa
dc.rights.accessRightsopen accessspa
dc.description.extent783 KBspa
dc.identifier.doi10.1186/s40246-021-00309-4spa
dc.relation.publisherversionhttps://humgenomics.biomedcentral.com/articles/10.1186/s40246-021-00309-4spa


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