Wiedemann-Rautenstrauch syndrome: A phenotype analysis

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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorPAOLACCI, Stefano
dc.contributor.authorBERTOLA, Debora
dc.contributor.authorFRANCO, Jose
dc.contributor.authorMOHAMMED, Shehla
dc.contributor.authorTARTAGLIA, Marco
dc.contributor.authorWOLLNIK, Bernd
dc.contributor.authorHENNEKAM, Raoul C.
dc.date.accessioned2017-10-24T13:23:21Z
dc.date.available2017-10-24T13:23:21Z
dc.date.issued2017
dc.description.abstractWiedemann-Rautenstrauch syndrome (WRS) is a neonatal progeroid disorder characterized by growth retardation, lipodystrophy, a distinctive face, and dental anomalies. Patients reported to date demonstrate a remarkable variability in phenotype, which hampers diagnostics. We performed a literature search, and analyzed 51 reported patients, using the originally reported patients as ""gold standard."" In 15 patients sufficient information and photographic evidence was available to confirm the clinical diagnosis. In 12 patients the diagnosis was suggestive but lack of data prevented a definite diagnosis, and in 24 patients an alternative diagnosis was likely. Core manifestations of the syndrome are marked pre-natal and severe post-natal growth retardation, an unusual face (triangular shape, sparse hair, small mouth, pointed chin), dental anomalies (natal teeth; hypodontia), generalized lipodystrophy with localized fat masses, and-in some cases-progressive ataxia and tremor. It has been suggested that the syndrome might be caused by biallelic variants in POLR3A, identified by exome sequencing in a single patient only. Therefore, we compared the WRS phenotype with characteristics of conditions known to be caused by autosomal recessively inherited POLR3A mutations. There are major differences but there are also similarities in phenotype, which sustain the suggestion that the syndrome can be caused by disturbed POLR3A functioning.
dc.description.indexMEDLINE
dc.identifier.citationAMERICAN JOURNAL OF MEDICAL GENETICS PART A, v.173, n.7, p.1763-1772, 2017
dc.identifier.doi10.1002/ajmg.a.38246
dc.identifier.eissn1552-4833
dc.identifier.issn1552-4825
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/22108
dc.language.isoeng
dc.publisherWILEY
dc.relation.ispartofAmerican Journal of Medical Genetics Part A
dc.rightsrestrictedAccess
dc.rights.holderCopyright WILEY
dc.subject4H syndrome
dc.subjectautosomal recessive
dc.subjectcerebellar hypoplasia-endosteal sclerosis
dc.subjectlipodystrophy
dc.subjectPOLR3A
dc.subjectPOLR3B
dc.subjectWiedemann-Rautenstrauch syndrome
dc.subject.otherneonatal progeroid syndrome
dc.subject.otherof-the-literature
dc.subject.othercompound heterozygous mutations
dc.subject.otherrna-polymerase iii
dc.subject.otherpolr3b mutations
dc.subject.otherfollow-up
dc.subject.otherhypomyelinating leukodystrophy
dc.subject.othercerebellar hypoplasia
dc.subject.otherfbn1 gene
dc.subject.otherhypogonadotropic hypogonadism
dc.subject.wosGenetics & Heredity
dc.titleWiedemann-Rautenstrauch syndrome: A phenotype analysis
dc.typearticle
dc.type.categoryoriginal article
dc.type.versionpublishedVersion
dspace.entity.typePublication
hcfmusp.affiliation.countryHolanda
hcfmusp.affiliation.countryAlemanha
hcfmusp.affiliation.countryInglaterra
hcfmusp.affiliation.countryItália
hcfmusp.affiliation.countryisoit
hcfmusp.affiliation.countryisogb
hcfmusp.affiliation.countryisode
hcfmusp.affiliation.countryisonl
hcfmusp.author.externalPAOLACCI, Stefano:Sapienza Univ Rome, Dept Expt Med, Rome, Italy
hcfmusp.author.externalMOHAMMED, Shehla:Guys Hosp, Dept Clin Genet, London, England
hcfmusp.author.externalTARTAGLIA, Marco:Osped Pediat Bambino Gesu, Genet & Rare Dis Res Div, Rome, Italy
hcfmusp.author.externalWOLLNIK, Bernd:Univ Med Ctr Gottingen, Inst Human Genet, Gottingen, Germany
hcfmusp.author.externalHENNEKAM, Raoul C.:Univ Amsterdam, Acad Med Ctr, Dept Pediat, Amsterdam, Netherlands
hcfmusp.citation.scopus31
hcfmusp.contributor.author-fmusphcDEBORA ROMEO BERTOLA
hcfmusp.contributor.author-fmusphcJOSE FRANCISCO DA SILVA FRANCO
hcfmusp.description.beginpage1763
hcfmusp.description.endpage1772
hcfmusp.description.issue7
hcfmusp.description.volume173
hcfmusp.origemWOS
hcfmusp.origem.pubmed28447407
hcfmusp.origem.scopus2-s2.0-85018703079
hcfmusp.origem.wosWOS:000406759100007
hcfmusp.publisher.cityHOBOKEN
hcfmusp.publisher.countryUSA
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