NAGIOS: RODERIC FUNCIONANDO

A c.1244G>A (p.Arg415Gln) mutation in SH3BP2 gene causes cherubism in a Turkish family: report of a family with review of the literature

Repositori DSpace/Manakin

IMPORTANT: Aquest repositori està en una versió antiga des del 3/12/2023. La nova instal.lació está en https://roderic.uv.es/

A c.1244G>A (p.Arg415Gln) mutation in SH3BP2 gene causes cherubism in a Turkish family: report of a family with review of the literature

dc.contributor.author	Sekerci, Ahmet Ercan	es
dc.contributor.author	Balta, Burhan	es
dc.contributor.author	Dundar, Munis	es
dc.contributor.author	Hu, Ying	es
dc.contributor.author	Reichenberger, Ernst-J.	es
dc.contributor.author	Etoz, Osman-A.	es
dc.contributor.author	Nazlim, Sinan	es
dc.contributor.author	Bayrakdar, Ibrahim-Sevki	es
dc.date.accessioned	2015-01-08T12:31:00Z
dc.date.available	2015-01-08T12:31:00Z
dc.date.issued	2014	es
dc.identifier.citation	Sekerci, Ahmet Ercan ; Balta, Burhan ; Dundar, Munis ; Hu, Ying ; Reichenberger, Ernst-J. ; Etoz, Osman-A. ; Nazlim, Sinan ; Bayrakdar, Ibrahim-Sevki. A c.1244G>A (p.Arg415Gln) mutation in SH3BP2 gene causes cherubism in a Turkish family: report of a family with review of the literature. En: Medicina oral, patología oral y cirugía bucal. Ed inglesa, 2014, Vol. 19, No. 4: 340-344	es
dc.identifier.uri	http://hdl.handle.net/10550/41122
dc.description.abstract	Objectives: The present study was aimed at advancing the understanding of the pathogenesis of cherubism by presenting a case study based on history, physical examination, typical radiological features, molecular and histo - pathological laboratory tests and a review of the literature. Study Design: This study began with a 7-year-old boy who was referred due to mandibular overgrowth. A pan - oramic radiograph revealed multilocular radiolucent lesions of the upper/lower jaws suggestive of cherubism. Overall, a total of four family members were tested for SH3BP2 mutations, namely two siblings and their parents. Both siblings had been clinically diagnosed with cherubism; however, the parents were clinically normal. Periph - eral blood was collected from all participants and genomic DNA sequencing was carried out. Results: A missense mutation was found in the two affected siblings and their asymptomatic mother. The mu - tation was a 1244 G>A transversion which resulted in an amino acid substitution from arginine to glutamine (p.Arg415Gln) in exon 9. Conclusions: The present study emphasized the importance of further clinical and molecular investigation even when only a single case of cherubism is identified within a family. Genotype-phenotype association studies in individuals with cherubism are necessary to provide important insights into the molecular mechanisms associated with this disease.	en_US
dc.subject	Odontología	es
dc.subject	Ciencias de la salud	es
dc.title	A c.1244G>A (p.Arg415Gln) mutation in SH3BP2 gene causes cherubism in a Turkish family: report of a family with review of the literature	es
dc.type	journal article	es_ES
dc.subject.unesco	UNESCO::CIENCIAS MÉDICAS	es
dc.type.hasVersion	VoR	es_ES
dc.identifier.url	http://www.medicinaoral.com/pubmed/medoralv19_i4_p340.pdf	es