Two novel mutations in the EIF2AK3 gene in children with Wolcott-Rallison syndrome

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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.authorREIS, Andre F.
dc.contributor.authorKANNENGIESSER, Caroline
dc.contributor.authorJENNANE, Farida
dc.contributor.authorMANNA, Thais Della
dc.contributor.authorCHEURFA, Nadir
dc.contributor.authorOUDIN, Claire
dc.contributor.authorSAVOLDELLI, Roberta Diaz
dc.contributor.authorOLIVEIRA, Carolina
dc.contributor.authorGRANDCHAMP, Bernard
dc.contributor.authorKOK, Fernando
dc.contributor.authorVELHO, Gilberto
dc.date.accessioned2017-11-27T16:39:40Z
dc.date.available2017-11-27T16:39:40Z
dc.date.issued2011
dc.description.abstractWolcott-Rallison syndrome (WRS, OMIM 226980) is a rare autosomal recessive disorder characterized by permanent neonatal diabetes mellitus, epiphyseal dysplasia, and other multisystemic clinical manifestations. We described two novel mutations in the EIF2AK3 gene in two consanguineous families with WRS from Brazil and Morocco. We have observed in case 1 a homozygous C > T replacement at base pair c.1192 at exon 7, generating a stop codon at position 398 (Gln398Stop). Both of his parents were found to be heterozygous for the mutation. We detected in both parents of case 2, a deceased Moroccan girl, a duplication of base pair c.851A at exon 5 (c.851dupA) leading to a frameshift and a stop codon at position 285 (p.Pro285AlafsX3). Both cases 1 and 2 had neonatal diabetes mellitus, multiple epiphyseal dysplasia, and growth delay, and presented episodes of acute hepatic dysfunction. Case 1 presented central hypothyroidism, developmental delay, and mild mental retardation. Case 2 presented a fatal episode of acute renal failure. The clinical phenotype associated with the syndrome can be variable, but a combination of infancy-onset diabetes mellitus, multiple epiphyseal dysplasia, and hepatic and/or renal dysfunction is the mainstay of diagnosis.
dc.description.indexMEDLINE
dc.description.sponsorshipCAPES, Brazil [1798-09-0]
dc.description.sponsorshipSociete Francophone du Diabete (SFD - Alfediam)
dc.identifier.citationPEDIATRIC DIABETES, v.12, n.3, p.187-191, 2011
dc.identifier.doi10.1111/j.1399-5448.2010.00679.x
dc.identifier.issn1399-543X
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/23807
dc.language.isoeng
dc.publisherWILEY-BLACKWELL
dc.relation.ispartofPediatric Diabetes
dc.rightsrestrictedAccess
dc.rights.holderCopyright WILEY-BLACKWELL
dc.subjectbone dysplasia
dc.subjectdiabetes mellitus
dc.subjectEIF2AK3
dc.subjectWRS
dc.subject.otherunfolded protein response
dc.subject.othercell-survival
dc.subject.otherkinase
dc.subject.otherperk
dc.subject.othertranslation
dc.subject.otherstress
dc.subject.wosEndocrinology & Metabolism
dc.subject.wosPediatrics
dc.titleTwo novel mutations in the EIF2AK3 gene in children with Wolcott-Rallison syndrome
dc.typearticle
dc.type.categoryoriginal article
dc.type.versionpublishedVersion
dspace.entity.typePublication
hcfmusp.affiliation.countryMarrocos
hcfmusp.affiliation.countryFrança
hcfmusp.affiliation.countryisofr
hcfmusp.affiliation.countryisoma
hcfmusp.author.externalREIS, Andre F.:Univ Fed Sao Paulo, Endocrinol Unit, Sao Paulo, Brazil
hcfmusp.author.externalKANNENGIESSER, Caroline:Hop Bichat Claude Bernard, AP HP, Lab Biochim Hormonale & Genet, F-75877 Paris 18, France; Univ Paris 07, UFR Med Site, F-75018 Paris, France
hcfmusp.author.externalJENNANE, Farida:Hop Enfants, CHU Ibn Rochd, Serv Pediat 2, Casablanca, Morocco
hcfmusp.author.externalCHEURFA, Nadir:INSERM, Res Unit 695, Paris, France
hcfmusp.author.externalSAVOLDELLI, Roberta Diaz:Univ Sao Paulo, Hosp Clin, Inst Crianca, Endocrine Pediat Unit, Sao Paulo, Brazil
hcfmusp.author.externalOLIVEIRA, Carolina:Univ Fed Sao Paulo, Endocrinol Unit, Sao Paulo, Brazil; Hop Bichat Claude Bernard, AP HP, Lab Biochim Hormonale & Genet, F-75877 Paris 18, France
hcfmusp.author.externalGRANDCHAMP, Bernard:Hop Bichat Claude Bernard, AP HP, Lab Biochim Hormonale & Genet, F-75877 Paris 18, France; Univ Paris 07, UFR Med Site, F-75018 Paris, France
hcfmusp.author.externalVELHO, Gilberto:INSERM, Res Unit 695, Paris, France
hcfmusp.contributor.author-fmusphcTHAIS DELLA MANNA
hcfmusp.contributor.author-fmusphcFERNANDO KOK
hcfmusp.description.beginpage187
hcfmusp.description.endpage191
hcfmusp.description.issue3
hcfmusp.description.volume12
hcfmusp.origemWOS
hcfmusp.origem.pubmed21518408
hcfmusp.origem.wosWOS:000289892200009
hcfmusp.publisher.cityMALDEN
hcfmusp.publisher.countryUSA
hcfmusp.relation.referenceBrickwood S, 2003, J MED GENET, V40, P685, DOI 10.1136/jmg.40.9.685
hcfmusp.relation.referenceEngelmann G, 2008, J INHERIT METAB DIS, V31, P540, DOI 10.1007/s10545-008-0867-0
hcfmusp.relation.referenceStiehm ER, 2008, J IMMUNOTOXICOL, V5, P227, DOI 10.1080/15476910802129646
hcfmusp.relation.referenceHarding HP, 2000, MOL CELL, V5, P897, DOI 10.1016/S1097-2765(00)80330-5
hcfmusp.relation.referenceZhang PC, 2002, MOL CELL BIOL, V22, P3864, DOI 10.1128/MCB.22.11.3864-3874.2002
hcfmusp.relation.referenceOzbek MN, 2010, PEDIATR DIABETES, V11, P279, DOI 10.1111/j.1399-5448.2009.00591.x
hcfmusp.relation.referenceThornton CM, 1997, PEDIATR PATHOL LAB M, V17, P487, DOI 10.1080/107710497174778
hcfmusp.relation.referenceCastelnau P, 2000, EUR J PEDIATR, V159, P631, DOI 10.1007/PL00008394
hcfmusp.relation.referenceIyer S, 2004, ACTA PAEDIATR, V93, P1195, DOI 10.1080/08035250410029362
hcfmusp.relation.referenceBin-Abbas B, 2002, AM J MED GENET, V111, P187, DOI 10.1002/ajmg.10495
hcfmusp.relation.referenceRubio-Cabezas O, 2009, J CLIN ENDOCR METAB, V94, P4162, DOI 10.1210/jc.2009-1137
hcfmusp.relation.referenceXu CY, 2005, J CLIN INVEST, V115, P2656, DOI 10.1172/JC126373
hcfmusp.relation.referenceAdler SM, 2007, ENDOCRIN METAB CLIN, V36, P657, DOI 10.1016/j.ecl.2007.04.007
hcfmusp.relation.referenceSenee V, 2004, DIABETES, V53, P1876, DOI 10.2337/diabetes.53.7.1876
hcfmusp.relation.referenceHarding HP, 2001, MOL CELL, V7, P1153, DOI 10.1016/S1097-2765(01)00264-7
hcfmusp.relation.referenceBiason-Lauber A, 2002, DIABETES, V51, P2301, DOI 10.2337/diabetes.51.7.2301
hcfmusp.relation.referenceDelepine M, 2000, NAT GENET, V25, P406
hcfmusp.relation.referenceBin-Abbas B, 2001, ANN SAUDI MED, V21, P73
hcfmusp.relation.referenceDurocher F, 2006, CLIN GENET, V70, P34, DOI 10.1111/j.1399-0004.2006.00632.x
hcfmusp.relation.referenceHarding HP, 1999, NATURE, V397, P271
hcfmusp.relation.referenceJENNANE F, 2005, REV MAR MAL ENF, V5, P41
hcfmusp.relation.referenceMarafie MJ, 2004, ANN SAUDI MED, V24, P476
hcfmusp.relation.referenceSchroder M, 2005, MUTAT RES-FUND MOL M, V569, P29, DOI 10.1016/j.mrfmmm.2004.06.056
hcfmusp.relation.referenceSOVIK O, 2008, J INHERIT METAB DIS, DOI 10.1007/S10545-10008-10866-10541
hcfmusp.relation.referenceWolcott C D, 1972, J Pediatr, V80, P292, DOI 10.1016/S0022-3476(72)80596-1
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