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

Gutiérrez-Prieto, Sandra J.; Torres-López, Diana María; García Robayo, Dabeiba Adriana; Rey-Cubillos, Jorge A.; Gomez, Mariluz

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dc.rights.licence	Atribución-NoComercial 4.0 Internacional	*
dc.contributor.author	Gutiérrez-Prieto, Sandra J.
dc.contributor.author	Torres-López, Diana María
dc.contributor.author	García Robayo, Dabeiba Adriana
dc.contributor.author	Rey-Cubillos, Jorge A.
dc.contributor.author	Gomez, Mariluz
dc.coverage.spatial	Colombia	spa
dc.date.accessioned	2023-03-17T13:41:37Z
dc.date.available	2023-03-17T13:41:37Z
dc.date.created	2021-09-30
dc.identifier	https://www.thieme-connect.de/products/ejournals/abstract/10.1055/s-0041-1726162	spa
dc.identifier.issn	1305-7456	spa
dc.identifier.uri	http://hdl.handle.net/10554/63839
dc.format	PDF	spa
dc.format.mimetype	application/pdf	spa
dc.language.iso	eng	spa
dc.rights.uri	http://creativecommons.org/licenses/by-nc/4.0/	*
dc.title	Clinical and Molecular Study of the NOG Gene in Families with Mandibular Micrognathism	spa
dc.type.hasversion	http://purl.org/coar/version/c_ab4af688f83e57aa
dc.description.quartilescopus	Q1	spa
dc.coverage.city	Bogotá (Colombia)	spa
dc.identifier.doi	https://doi.org/10.1055/s-0041-1726162	spa
dc.description.comunidad	Pacientes con Micrognatismo mandibular	spa
dc.subject.keyword	Noggin gene	spa
dc.subject.keyword	Mandibular micrognathism	spa
dc.subject.keyword	Methylation	spa
dc.subject.keyword	Bone morphogenic proteins	spa
dc.description.abstractenglish	Objectives: 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.type.local	Artículo de revista	spa
dc.contributor.corporatename	Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana	spa
dc.identifier.instname	instname:Pontificia Universidad Javeriana	spa
dc.identifier.reponame	reponame:Repositorio Institucional - Pontificia Universidad Javeriana	spa
dc.identifier.repourl	repourl:https://repository.javeriana.edu.co	spa
dc.type.coar	http://purl.org/coar/resource_type/c_6501	spa
dc.description.orcid	https://orcid.org/0000-0002-2112-2563	spa
dc.description.orcid	https://orcid.org/0000-0002-9879-9775	spa
dc.description.orcid	https://orcid.org/0000-0003-0770-9138	spa
dc.description.orcid	https://orcid.org/0000-0003-2527-3593	spa
dc.relation.citationstartpage	746	spa
dc.relation.citationendpage	754	spa
dc.relation.ispartofjournal	European Journal of Dentistry	spa
dc.contributor.javerianateacher	Torres-López, Diana María
dc.description.indexing	Revista Internacional - Indexada	spa
dc.relation.citationvolume	15	spa
dc.relation.citationissue	4	spa
dc.rights.coar	http://purl.org/coar/access_right/c_abf2	spa
dc.description.publindex	A2	spa
dc.description.esci	No	spa