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Clinical and Molecular Study of the NOG Gene in Families with Mandibular Micrognathism

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dc.contributor.authorGutiérrez-Prieto, Sandra J.
dc.contributor.authorTorres-López, Diana María
dc.contributor.authorGarcía Robayo, Dabeiba Adriana
dc.contributor.authorRey-Cubillos, Jorge A.
dc.contributor.authorGomez, Mariluz
dc.contributor.corporatenamePontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humanaspa
dc.contributor.javerianateacherTorres-López, Diana María
dc.coverage.cityBogotá (Colombia)spa
dc.coverage.spatialColombiaspa
dc.date.accessioned2023-03-17T13:41:37Z
dc.date.available2023-03-17T13:41:37Z
dc.date.created2021-09-30
dc.description.abstractenglishObjectives: Previous studies showed that noggin gene (NOG) sequence alterations, as well as epigenetic factors, could influence mandibular development. The aim of this study was to analyze clinical characteristics, NOG gene sequences, and promoter methylation sites in patients with mandibular micrognathism. Materials and Methods: A total of 35 individuals of five Colombian families were subject to clinical and cephalometric analysis for mandibular micrognathism. One nonaffected individual of each family was included as a control. DNA was isolated from whole blood sample from all individuals by salting out method. Nine NOG gene fragments were amplified by polymerase chain reaction (PCR) and sequenced. Identification of CpG islands for methylation analysis at the NOG gene promoter was performed by MSP-PCR kit (Qiagen R). Statistical Analysis: A descriptive statistical analysis was carried out evaluating the presence or absence of genetics variants and the methylation sites in the NOG gene. Results: NOG sequence results of affected individuals with mandibular micrognathism for one of the families studied demonstrated that they were heterozygous for 672 C/A (new mutation). For a second family, individuals were heterozygous for 567 G/C (single nucleotide polymorphism [SNP] RS116716909). For DNA analyzed from all patients studied, no methylations were observed at the NOG gene promoter region. Conclusion: Our results suggested that 672 C/A and 567 G/C variants could be involved in the presence of mandibular micrognathism. Moreover, lack of methylation sites at the NOG gene promoter region of all individuals studied suggests possibly other epigenetic factors could modulate mandibular growth. The search of genetic variants related with mandibular micrognathism will allow to predict in an integral way the development patterns of the patients and therefore establish a better clinical treatment.spa
dc.description.comunidadPacientes con Micrognatismo mandibularspa
dc.description.esciNospa
dc.description.indexingRevista Internacional - Indexadaspa
dc.description.orcidhttps://orcid.org/0000-0002-2112-2563spa
dc.description.orcidhttps://orcid.org/0000-0002-9879-9775spa
dc.description.orcidhttps://orcid.org/0000-0003-0770-9138spa
dc.description.orcidhttps://orcid.org/0000-0003-2527-3593spa
dc.description.publindexA2spa
dc.description.quartilescopusQ1spa
dc.formatPDFspa
dc.format.mimetypeapplication/pdfspa
dc.identifierhttps://www.thieme-connect.de/products/ejournals/abstract/10.1055/s-0041-1726162spa
dc.identifier.doihttps://doi.org/10.1055/s-0041-1726162spa
dc.identifier.instnameinstname:Pontificia Universidad Javerianaspa
dc.identifier.issn1305-7456spa
dc.identifier.reponamereponame:Repositorio Institucional - Pontificia Universidad Javerianaspa
dc.identifier.repourlrepourl:https://repository.javeriana.edu.cospa
dc.identifier.urihttp://hdl.handle.net/10554/63839
dc.language.isoengspa
dc.relation.citationendpage754spa
dc.relation.citationissue4spa
dc.relation.citationstartpage746spa
dc.relation.citationvolume15spa
dc.relation.ispartofjournalEuropean Journal of Dentistryspa
dc.rights.coarhttp://purl.org/coar/access_right/c_abf2spa
dc.rights.licenceAtribución-NoComercial 4.0 Internacional*
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/*
dc.subject.keywordNoggin genespa
dc.subject.keywordMandibular micrognathismspa
dc.subject.keywordMethylationspa
dc.subject.keywordBone morphogenic proteinsspa
dc.titleClinical and Molecular Study of the NOG Gene in Families with Mandibular Micrognathismspa
dc.type.coarhttp://purl.org/coar/resource_type/c_6501spa
dc.type.hasversionhttp://purl.org/coar/version/c_ab4af688f83e57aa
dc.type.localArtículo de revistaspa

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