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dc.contributor.authorMontalván-Suárez, M.
dc.contributor.authorEsperón Moldes, Uxía Saraiva
dc.contributor.authorRodríguez Pazos, Laura 
dc.contributor.authorOrdoñez Ugalde, Andrés
dc.contributor.authorMoscoso, F.
dc.contributor.authorUgalde-Noritz, N.
dc.contributor.authorSantomé Collazo, Luís
dc.contributor.authorFachal Vilar, Laura
dc.contributor.authorTettamanti-Miranda, D.
dc.contributor.authorRuiz, J. C.
dc.contributor.authorGinarte Val, Manuel Javier
dc.contributor.authorVega Gliemmo, Ana
dc.date.accessioned2021-10-14T09:18:36Z
dc.date.available2021-10-14T09:18:36Z
dc.date.issued2019
dc.identifier.issn2324-9269
dc.identifier.otherhttps://www.ncbi.nlm.nih.gov/pubmed/30916489
dc.identifier.otherhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503032/pdf/MGG3-7-e608.pdf
dc.identifier.urihttp://hdl.handle.net/20.500.11940/15521
dc.description.abstractBACKGROUND: Autosomal recessive congenital ichthyoses (ARCI) have been associated with different phenotypes including: harlequin ichthyosis (HI), congenital ichthyosiform erythroderma (CIE), and lamellar ichthyosis (LI). While pathogenic variants in all ARCI genes are associated with LI and CIE phenotypes, the unique gene associated with HI is ABCA12. In HI, the most severe ARCI form, pathogenic variants in both ABCA12 gene alleles usually have a severe impact on protein function. The presence of at least one non-truncating variant frequently causes a less severe congenital ichthyosis phenotype (LI and CIE). METHODS: We report the case of a 4-year-old Ecuadorian boy with a severe skin disease. Genetic diagnosis was performed by NGS. In silico predictions were performed using Alamut software v2.11. A review of the literature was carried out to identify all patients carrying ABCA12 splice-site and missense variants, and to explore their genotype-phenotype correlations. RESULTS: Genetic testing revealed a nonsense substitution, p.(Arg2204*), and a new missense variant, p.(Val1927Leu), in the ABCA12 gene. After performing in silico analysis and a comprehensive review of the literature, we conclude that p.(Val1927Leu) affects a well conserved residue which could either disturb the protein function or alter the splicing process, both alternatives could explain the severe phenotype of our patient. CONCLUSION: This case expands the spectrum of ABCA12 reported disease-causing variants which is important to unravel genotype-phenotype correlations and highlights the importance of missense variants in the development of HI.
dc.rightsAtribución 4.0 Internacional
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.titleA novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations
dc.typeArtigoes
dc.authorsophosFachal Vilar, Laura
dc.authorsophosVega Gliemmo, Ana
dc.authorsophosGinarte Val, Manuel Javier
dc.authorsophosRodríguez Pazos, Laura
dc.authorsophosOrdoñez Ugalde, Andrés
dc.authorsophosSantomé Collazo, Luís
dc.authorsophosEsperón Moldes, Uxía Saraiva
dc.identifier.doi10.1002/mgg3.608
dc.identifier.pmid30916489
dc.identifier.sophos30871
dc.issue.number5
dc.journal.titleMolecular genetics & genomic medicine.
dc.organizationServizo Galego de Saúde::Dirección Xeral de Asistencia Sanitaria::Fundación Pública Galega de Medicina Xenómica
dc.organizationServizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::EOXI de Santiago de Compostela - Complexo Hospitalario Universitario de Santiago de Compostela::Dermatoloxía
dc.organizationServizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::EOXI de Vigo - Complexo Hospitalario Universitario de Vigo::Dermatoloxía
dc.organizationServizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS)
dc.page.initiale608es
dc.rights.accessRightsopenAccess
dc.subject.keywordFPGMX
dc.subject.keywordCHUS
dc.subject.keywordCHUVI
dc.subject.keywordIDIS
dc.typefidesArtículo Científico (incluye Original, Original breve, Revisión Sistemática y Meta-análisis)
dc.typesophosArtículo Original
dc.volume.number7


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