Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile

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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.authorNORONHA, Renata M.
dc.contributor.authorVILLARES, Sandra M. F.
dc.contributor.authorTORRES, Natalia
dc.contributor.authorQUEDAS, Elisangela P. S.
dc.contributor.authorHOMMA, Thais Kataoka
dc.contributor.authorALBUQUERQUE, Edoarda V. A.
dc.contributor.authorMORAES, Michelle B.
dc.contributor.authorFUNARI, Mariana F. A.
dc.contributor.authorBERTOLA, Debora R.
dc.contributor.authorJORGE, Alexander A. L.
dc.contributor.authorMALAQUIAS, Alexsandra C.
dc.date.accessioned2021-04-15T19:44:27Z
dc.date.available2021-04-15T19:44:27Z
dc.date.issued2021
dc.description.abstractNoonan syndrome (NS) and NS related disorders (NRD) are frequent monogenic diseases. Pathogenic variants in PTPN11 are observed in approximately 50% of these NS patients. Several pleiotropic phenotypes have previously been described in this condition. This study aimed at characterizing glucose and lipid profiles in patients with NS/NRD. We assessed fasting blood glucose, insulin, cholesterol (total and fractions), and triglyceride (TG) levels in 112 prepubertal children and 73 adults. Additionally, an oral glucose tolerance test (OGTT) was performed in 40 children and 54 adults. Data were analyzed between age groups according to the presence (+) or absence (-) of PTPN11 mutation. Prepubertal patients with NS/NRD were also compared with a control group. Despite the lean phenotype of children with NS/NRD, they presented an increased frequency of low HDL-cholesterol (63% in PTPN11+, 59% in PTPN11- and 16% in control, p < .001) and high TG levels (29% in PTPN11+, 18% in PTPN11- and 2.3% in control). PTPN11+ patients had a higher median HOMA-IR (1.0, ranged from 0.3 to 3.2) in comparison with PTPN11- (0.6; 0.2 to 4.4) and controls (0.6; 0.4 to 1.4, p = .027). Impaired glucose tolerance was observed in 19% (10:54) of lean adults with NS/NRD assessed by OGTT. Moreover, women with PTPN11 mutations had lower HDL-cholesterol levels than those without. Our results suggest that children and young adult patients with NS/NRD have an unfavorable metabolic profile characterized by low HDL, a tendency of elevated TGs, and glucose metabolism impairment despite a lean phenotype.eng
dc.description.indexMEDLINEeng
dc.description.sponsorshipConselho Nacional de Desenvolvimento Cientifico e TecnologicoNational Council for Scientific and Technological Development (CNPq) [301871/2016-7]
dc.description.sponsorshipFundacao de Amparo a Pesquisa do Estado de Sao PauloFundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP) [2014/09410-0]
dc.description.sponsorshipCNPqNational Council for Scientific and Technological Development (CNPq)
dc.identifier.citationAMERICAN JOURNAL OF MEDICAL GENETICS PART A, v.185, n.3, p.774-780, 2021
dc.identifier.doi10.1002/ajmg.a.62039
dc.identifier.eissn1552-4833
dc.identifier.issn1552-4825
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/39746
dc.language.isoeng
dc.publisherWILEYeng
dc.relation.ispartofAmerican Journal of Medical Genetics Part A
dc.rightsrestrictedAccesseng
dc.rights.holderCopyright WILEYeng
dc.subjectglucoseeng
dc.subjectinsulineng
dc.subjectmetabolismeng
dc.subjectNoonan syndromeeng
dc.subjectPTPN11eng
dc.subjectRASopathyeng
dc.subject.otherdensity-lipoprotein cholesteroleng
dc.subject.othershp2 tyrosine phosphataseeng
dc.subject.otherplasmaeng
dc.subject.otherhomeostasiseng
dc.subject.otherdisorderseng
dc.subject.othermutationseng
dc.subject.othervariantseng
dc.subject.otherglucoseeng
dc.subject.othergeneseng
dc.subject.wosGenetics & Heredityeng
dc.titleNoonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profileeng
dc.typearticleeng
dc.type.categoryoriginal articleeng
dc.type.versionpublishedVersioneng
dspace.entity.typePublication
hcfmusp.author.externalTORRES, Natalia:Hosp Israelita Albert Einstein, Sao Paulo, Brazil
hcfmusp.citation.scopus8
hcfmusp.contributor.author-fmusphcRENATA MARIA DE NORONHA
hcfmusp.contributor.author-fmusphcSANDRA MARA FERREIRA VILLARES
hcfmusp.contributor.author-fmusphcELISANGELA PEREIRA DE SOUZA QUEDAS
hcfmusp.contributor.author-fmusphcTHAIS KATAOKA HOMMA
hcfmusp.contributor.author-fmusphcEDOARDA VASCO DE ALBUQUERQUE ALBUQUERQUE
hcfmusp.contributor.author-fmusphcMICHELLE BUSCARILLI DE MORAES
hcfmusp.contributor.author-fmusphcMARIANA FERREIRA DE ASSIS FUNARI
hcfmusp.contributor.author-fmusphcDEBORA ROMEO BERTOLA
hcfmusp.contributor.author-fmusphcALEXANDER AUGUSTO DE LIMA JORGE
hcfmusp.contributor.author-fmusphcALEXSANDRA CHRISTIANNE MALAQUIAS DE MOURA RIBEIRO
hcfmusp.description.beginpage774
hcfmusp.description.endpage780
hcfmusp.description.issue3
hcfmusp.description.volume185
hcfmusp.origemWOS
hcfmusp.origem.pubmed33382187
hcfmusp.origem.scopus2-s2.0-85098445179
hcfmusp.origem.wosWOS:000603688700001
hcfmusp.publisher.cityHOBOKENeng
hcfmusp.publisher.countryUSAeng
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