Richieri-Costa-Pereira syndrome: Expanding its phenotypic and genotypic spectrum

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dc.citation.issue4
dc.citation.volumev. 93
dc.contributor.authorBertola, D. R.
dc.contributor.authorHsia, G.
dc.contributor.authorAlvizi, L.
dc.contributor.authorGardham, A.
dc.contributor.authorWakeling, E. L.
dc.contributor.authorYamamoto, G. L.
dc.contributor.authorHonjo, R. S.
dc.contributor.authorOliveira, L. A. N.
dc.contributor.authorDi Francesco, R. C.
dc.contributor.authorPerez, B. A. [UNIFESP]
dc.contributor.authorKim, C. A.
dc.contributor.authorPassos-Bueno, M. R.
dc.coverageHoboken
dc.date.accessioned2020-07-20T16:31:12Z
dc.date.available2020-07-20T16:31:12Z
dc.date.issued2018
dc.description.abstractRichieri-Costa-Pereira syndrome is a rare autosomal recessive acrofacial dysostosis that has been mainly described in Brazilian individuals. The cardinal features include Robin sequence, cleft mandible, laryngeal anomalies and limb defects. A biallelic expansion of a complex repeated motif in the 5 untranslated region of EIF4A3 has been shown to cause this syndrome, commonly with 15 or 16 repeats. The only patient with mild clinical findings harbored a 14-repeat expansion in 1 allele and a point mutation in the other allele. This proband is described here in more details, as well as is his affected sister, and 5 new individuals with Richieri-Costa-Pereira syndrome, including a patient from England, of African ancestry. This study has expanded the phenotype in this syndrome by the observation of microcephaly, better characterization of skeletal abnormalities, less severe phenotype with only mild facial dysmorphisms and limb anomalies, as well as the absence of cleft mandible, which is a hallmark of the syndrome. Although the most frequent mutation in this study was the recurrent 16-repeat expansion in EIF4A3, there was an overrepresentation of the 14-repeat expansion, with mild phenotypic expression, thus suggesting that the number of these motifs could play a role in phenotypic delineation.en
dc.description.affiliationUniv Sao Paulo, Unidade Genet, Inst Crianca, Hosp Clin FMUSP, Sao Paulo, Brazil
dc.description.affiliationUniv Sao Paulo, Inst Biociencias, Sao Paulo, Brazil
dc.description.affiliationGreat Ormond St Hosp Sick Children, North East Thames Reg Genet Serv, London, England
dc.description.affiliation[North West Thames Reg Genet Serv, Clin Genet, London, England
dc.description.affiliationNorth West London Hosp NHS Trust, Harrow, Middx, England
dc.description.affiliationUniv Sao Paulo, Hosp Clin FMUSP, Dept Otorrinolaringol, Sao Paulo, Brazil
dc.description.affiliationUniv Fed Sao Paulo, Dept Genet, Sao Paulo, Brazil
dc.description.affiliationUnifespUniv Fed Sao Paulo, Dept Genet, Sao Paulo, Brazil
dc.description.sourceWeb of Science
dc.description.sponsorshipConselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPq)
dc.description.sponsorshipFundacao de Amparo a Pesquisa do Estado de Sao Paulo
dc.description.sponsorshipIDCNPq: 304130/2016-8
dc.description.sponsorshipIDFAPESP: 2015/21783-9
dc.format.extent800-811
dc.identifierhttp://dx.doi.org/10.1111/cge.13169
dc.identifier.citationClinical Genetics. Hoboken, v. 93, n. 4, p. 800-811, 2018.
dc.identifier.doi10.1111/cge.13169
dc.identifier.issn0009-9163
dc.identifier.urihttps://repositorio.unifesp.br/handle/11600/55779
dc.identifier.wosWOS:000427471000009
dc.language.isoeng
dc.publisherWiley
dc.relation.ispartofClinical Genetics
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectacrofacial dysostosisen
dc.subjectEIF4A3en
dc.subjectgenotypeen
dc.subjectphenotypeen
dc.subjectRichieri-Costa-Pereira syndromeen
dc.titleRichieri-Costa-Pereira syndrome: Expanding its phenotypic and genotypic spectrumen
dc.typeinfo:eu-repo/semantics/article
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