A microduplication of 5p15.33 reveals CLPTM1L as a candidate gene for cleft lip and palate

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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.authorIZZO, Giselle
dc.contributor.authorFREITAS, Erika L.
dc.contributor.authorKREPISCHI, Ana Cristina V.
dc.contributor.authorPEARSON, Peter L.
dc.contributor.authorVASQUES, Luciana R.
dc.contributor.authorPASSOS-BUENO, Maria Rita S.
dc.contributor.authorBERTOLA, Debora R.
dc.contributor.authorROSENBERG, Carla
dc.date.accessioned2014-01-28T22:31:06Z
dc.date.available2014-01-28T22:31:06Z
dc.date.issued2013
dc.description.abstractWe report a 10-year-old boy with syndromic cleft lip and palate (CLP) and neuro-psychomotor developmental delay. Oligoarray comparative genomic hybridization (aCGH) detected an approximately 300 kb interstitial microduplication at 5p15.33 encompassing 5 protein-coding genes, including TERT and CLPTM1L, and two microRNA genes. Our findings suggest that the duplicated segment predisposes for cleft lip with or without cleft palate (CL/P), or any of the other phenotypic features presented by the patient. A gene coding a similar protein (CLPMT1) has been implicated in CLP etiology both through linkage studies and by a translocation disrupting the gene, indicating the possible involvement of CLPTM1L with CL/P. This is the first report of a possible connection between CLPTM1L and CLP.
dc.description.indexMEDLINE
dc.identifier.citationEUROPEAN JOURNAL OF MEDICAL GENETICS, v.56, n.4, p.222-225, 2013
dc.identifier.doi10.1016/j.ejmg.2013.01.002
dc.identifier.issn1769-7212
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/4468
dc.language.isoeng
dc.publisherELSEVIER SCIENCE BV
dc.relation.ispartofEuropean Journal of Medical Genetics
dc.rightsrestrictedAccess
dc.rights.holderCopyright ELSEVIER SCIENCE BV
dc.subjectMicroduplication
dc.subjectaCGH
dc.subjectTERT
dc.subjectCLPTM1L
dc.subjectCleft lip and palate
dc.subject.wosGenetics & Heredity
dc.titleA microduplication of 5p15.33 reveals CLPTM1L as a candidate gene for cleft lip and palate
dc.typearticle
dc.type.categoryoriginal article
dc.type.versionpublishedVersion
dspace.entity.typePublication
hcfmusp.author.externalIZZO, Giselle:Univ Sao Paulo, Inst Biosci, Dept Genet & Evolutionary Biol, Sao Paulo, Brazil
hcfmusp.author.externalFREITAS, Erika L.:Univ Sao Paulo, Inst Biosci, Dept Genet & Evolutionary Biol, Sao Paulo, Brazil
hcfmusp.author.externalKREPISCHI, Ana Cristina V.:Hosp AC Camargo Fund Antonio Prudente, Sao Paulo, Brazil
hcfmusp.author.externalPEARSON, Peter L.:Univ Sao Paulo, Inst Biosci, Dept Genet & Evolutionary Biol, Sao Paulo, Brazil
hcfmusp.author.externalVASQUES, Luciana R.:Univ Sao Paulo, Inst Biosci, Dept Genet & Evolutionary Biol, Sao Paulo, Brazil
hcfmusp.author.externalPASSOS-BUENO, Maria Rita S.:Univ Sao Paulo, Inst Biosci, Dept Genet & Evolutionary Biol, Sao Paulo, Brazil
hcfmusp.author.externalROSENBERG, Carla:Univ Sao Paulo, Inst Biosci, Dept Genet & Evolutionary Biol, Sao Paulo, Brazil
hcfmusp.citation.scopus11
hcfmusp.contributor.author-fmusphcDEBORA ROMEO BERTOLA
hcfmusp.description.beginpage222
hcfmusp.description.endpage225
hcfmusp.description.issue4
hcfmusp.description.volume56
hcfmusp.origemWOS
hcfmusp.origem.pubmed23395979
hcfmusp.origem.scopus2-s2.0-84875894671
hcfmusp.origem.wosWOS:000324892800010
hcfmusp.publisher.cityAMSTERDAM
hcfmusp.publisher.countryNETHERLANDS
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hcfmusp.scopus.lastupdate2024-05-10
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