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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.authorMARUI, Suemi
dc.contributor.authorTRARBACH, Ericka B.
dc.contributor.authorBOGUSZEWSKI, Margaret C. S.
dc.contributor.authorFRANCA, Marcela M.
dc.contributor.authorJORGE, Alexander A. L.
dc.contributor.authorINOUE, Hiroshi
dc.contributor.authorNISHI, Mirian Y.
dc.contributor.authorLACERDA FILHO, Luiz de
dc.contributor.authorAGUIAR-OLIVEIRA, Manuel H.
dc.contributor.authorMENDONCA, Berenice B.
dc.contributor.authorARNHOLD, Ivo J. P.
dc.date.accessioned2013-07-30T14:41:46Z
dc.date.available2013-07-30T14:41:46Z
dc.date.issued2012
dc.identifier.citationHORMONE RESEARCH IN PAEDIATRICS, v.78, n.3, p.165-172, 2012
dc.identifier.issn1663-2818
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/438
dc.description.abstractBackground: Mutations in GH-releasing hormone receptor gene (GHRHR) are emerging as the most common cause of autosomal recessive isolated GH deficiency (IGHD). Objective: To search for GHRHR mutations in patients with familial or sporadic IGHD and to investigate founder effects in recurring mutations. Methods: The coding region of GHRHR was entirely amplified and sequenced from DNA of 18 patients with IGHD (16 unrelated) with topic posterior pituitary lobe on MRI. Haplotypes containing promoter SNPs and microsatellites flanking GHRHR were analyzed in patients with c.57+1G>A (IVS1+1G>A) mutation of our previously published kindred and also a Brazilian patient and 2 previously reported Japanese sisters with c. 1146G>A (p.E382E) mutation. Results: A novel homozygous intronic GHRHR c.752-1G>A (IVS7-1G>A) mutation, predicting loss of the constitutive splice acceptor site, was identified in two siblings with IGHD. A compound heterozygous c.[57+1G>A];[1146G>A] and a heterozygous c.527C>T (p.A176V) were found in two sporadic cases. Haplotype analysis provided evidence for a founder effect for the c.57+1G>A mutation and independent recurrence for the c.1146G>A mutation. Conclusion: We report a novel splice-disrupting mutation in GHRHR in 2 siblings and provide evidence that all c.57+1G>A (IVS1+1G>A) mutant chromosomes have the same haplotype ancestor, indicating the occurrence of a founder effect in Brazilian patients with IGHD.
dc.description.sponsorshipFundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP) [99/10692-8, 00/06677-2, 00/14092-4]
dc.description.sponsorshipConselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPq) [475870/2009-3, 301477/2009-4, 301339/2008-9, 300982/2009-7]
dc.language.isoeng
dc.publisherKARGER
dc.relation.ispartofHormone Research in Paediatrics
dc.rightsrestrictedAccess
dc.subjectGHRHR mutations
dc.subjectIsolated GH deficiency
dc.subjectSplicing mutations
dc.subjectGrowth
dc.subjectMutations
dc.subject.otherghrhr gene
dc.subject.otherdeficiency
dc.subject.otherexpression
dc.subject.otherfamily
dc.titleGH-Releasing Hormone Receptor Gene: A Novel Splice-Disrupting Mutation and Study of Founder Effects
dc.typearticle
dc.rights.holderCopyright KARGER
dc.identifier.doi10.1159/000342760
dc.identifier.pmid23052699
dc.subject.wosEndocrinology & Metabolism
dc.subject.wosPediatrics
dc.type.categoryoriginal article
dc.type.versionpublishedVersion
hcfmusp.author.externalBOGUSZEWSKI, Margaret C. S.:Univ Fed Parana, Dept Pediat, BR-80060000 Curitiba, Parana, Brazil
hcfmusp.author.externalINOUE, Hiroshi:Univ Tokushima, Tokushima 770, Japan
hcfmusp.author.externalLACERDA FILHO, Luiz de:Univ Fed Parana, Dept Pediat, BR-80060000 Curitiba, Parana, Brazil
hcfmusp.author.externalAGUIAR-OLIVEIRA, Manuel H.:Univ Fed Sergipe, Dept Med, Aracaju, Brazil
hcfmusp.description.beginpage165
hcfmusp.description.endpage172
hcfmusp.description.issue3
hcfmusp.description.volume78
hcfmusp.origemWOS
hcfmusp.origem.idWOS:000310562400005
hcfmusp.origem.id2-s2.0-85027958818
hcfmusp.publisher.cityBASEL
hcfmusp.publisher.countrySWITZERLAND
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dc.description.indexMEDLINE
hcfmusp.remissive.sponsorshipCNPq
hcfmusp.remissive.sponsorshipFAPESP
hcfmusp.lim.ref2012
hcfmusp.citation.scopus15-
hcfmusp.scopus.lastupdate2022-04-15-
Appears in Collections:

Artigos e Materiais de Revistas Científicas - FM/MCM
Departamento de Clínica Médica - FM/MCM

Artigos e Materiais de Revistas Científicas - HC/ICHC
Instituto Central - HC/ICHC

Artigos e Materiais de Revistas Científicas - LIM/25
LIM/25 - Laboratório de Endocrinologia Celular e Molecular

Artigos e Materiais de Revistas Científicas - LIM/42
LIM/42 - Laboratório de Hormônios e Genética Molecular


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