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RPS6KA3 duplication in a male child with severe intellectual disability

2017-07Conference object Open access
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dc.contributor.authorSerafim, Silvia
dc.contributor.authorMarques, Bárbara
dc.contributor.authorFerreira, Cristina
dc.contributor.authorBrito, Filomena
dc.contributor.authorSilva, Marisa
dc.contributor.authorSimão, Laurentino
dc.contributor.authorAlves, Cristina
dc.contributor.authorPedro, Sónia
dc.contributor.authorSá, Joaquim
dc.contributor.authorCorreia, Hildeberto
dc.date.accessioned2018-03-06T17:11:56Z
dc.date.available2018-03-06T17:11:56Z
dc.date.issued2017-07
dc.description.abstractRare inherited and de novo copy number variations (CNVs) are the cause of a variety of genetic disorders with intellectual disability (ID). Chromosomal microarray analysis (CMA) has been a rapid method to identify both large and small pathogenic genomic imbalances causing those disorders. The identification and classification of a CNV as pathogenic is not always easy to establish. If for deletions, or loss of function of specific genes, the likelihood of being causal is higher, for duplications, or overexpression for the same genes, the correlation is harder. Here we present a male child with severe ID and a family history with a female sibling presenting mild ID. Affymetrix Cytoscan HD CMA identified a gain of 530 Kb on Xp22.12 (chrX: 20016145_20546410 [GRCh37])) encompassing EIF1AX and RPS6KA3 genes. Inheritance was not yet possible to assess. Mutations in the RPS6KA3 gene causes Coffin-Lowry syndrome, a mental retardation syndrome with dysmorphic facial features and skeletal anomalies. X-linked mental retardation-19 is a nonsyndromic form of mild to moderate ID also caused by mutations in RPS6KA3. Carrier females may be mildly affected. This shows some phenotypic variability for the loss of function of this gene. Recently both familial and isolated cases have been reported with a duplication of the entire RPS6KA3 gene associated with mild to moderate ID. Those few cases suggest the increased dosage of this gene may be the cause for the ID in these patients and point to additional heterogenicity of genotype-phenotype of imbalances in this gene. The collection of more cases with duplication of RPS6KA3, as the one described herein, will help establish a better classification for those CNVs, finding the real burden on the patient’s phenotype, and delineating the subsequent genetic counseling for their families.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationMolecular Cytogenetics. 2017;10(Suppl 1):22pt_PT
dc.identifier.doi10.1186/s13039-017-0319-3pt_PT
dc.identifier.issn1755-8166 (online)
dc.identifier.urihttp://hdl.handle.net/10400.18/5227
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherBioMed Centralpt_PT
dc.relation.publisherversionhttps://molecularcytogenetics.biomedcentral.com/articles/10.1186/s13039-017-0319-3pt_PT
dc.subjectCMApt_PT
dc.subjectIntellectual Disabilitypt_PT
dc.subjectRPS6KA3pt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleRPS6KA3 duplication in a male child with severe intellectual disabilitypt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlaceFlorença; Itáliapt_PT
oaire.citation.endPage22pt_PT
oaire.citation.issueSuppl 1pt_PT
oaire.citation.startPage22pt_PT
oaire.citation.title11th European Cytogenetics Conference, 1-4 July 2017pt_PT
oaire.citation.volume10pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typeconferenceObjectpt_PT

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