Novel FGF10 mutation in autosomal dominant aplasia of lacrimal and salivary glands

Basit Öğe Kaydı
dc.contributor.authorSeymen, Figen
dc.contributor.authorKoruyucu, Mine
dc.contributor.authorToptanci, Ismet Rezani
dc.contributor.authorBalsak, Selahattin
dc.contributor.authorDedeoglu, Serkan
dc.contributor.authorCelepkolu, Tahsin
dc.contributor.authorShin, Teo Jeon
dc.date.accessioned2024-04-24T16:01:58Z
dc.date.available2024-04-24T16:01:58Z
dc.date.issued2017
dc.departmentDicle Üniversitesien_US
dc.description.abstractAplasia of lacrimal and salivary glands (ALSG) is a rare autosomal dominant inherited disease, characterized by aplasia, atresia, or hypoplasia of the lacrimal and salivary systems with variable expressivity. The purpose of this study was to identify genetic etiology of an ALSG family. We recruited a Turkish family with ALSG and performed a mutational analysis, based on the candidate gene approach, to clarify the molecular genetic etiology. The candidate gene sequencing of the FGF10 gene identified a novel heterozygous nonsense mutation (c.237G > A, p.Trp79*) in the exon 1. The identified novel mutation would result in a haploinsufficiency of the FGF10, because of nonsense-mediated mRNA decay caused by a premature stop codon. This report further confirms that ALSG is caused by the haploinsufficiency of functional FGF10. Identification of the genetic etiology of the ALSG will help both the family members and dentist understand the nature of the disorder. Therefore, it will positively motivate oral health care to avoid further destruction of the tooth due to the lack of salivary production.en_US
dc.description.sponsorshipNational Research Foundation of Korea (NRF) - Korean government [2014R1A2A1A11049931]en_US
dc.description.sponsorshipThis work was supported by grants by the National Research Foundation of Korea (NRF) grant funded by the Korean government (2014R1A2A1A11049931).en_US
dc.identifier.doi10.1007/s00784-016-1771-x
dc.identifier.endpage172en_US
dc.identifier.issn1432-6981
dc.identifier.issn1436-3771
dc.identifier.issue1en_US
dc.identifier.pmid26955834
dc.identifier.scopus2-s2.0-84960157884
dc.identifier.scopusqualityQ1
dc.identifier.startpage167en_US
dc.identifier.urihttps://doi.org/10.1007/s00784-016-1771-x
dc.identifier.urihttps://hdl.handle.net/11468/14545
dc.identifier.volume21en_US
dc.identifier.wosWOS:000391388300019
dc.identifier.wosqualityQ1
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoenen_US
dc.publisherSpringer Heidelbergen_US
dc.relation.ispartofClinical Oral Investigations
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectFgf10en_US
dc.subjectAplasia Of Lacrimal And Salivary Glandsen_US
dc.subjectLacrimo-Auriculo-Dento-Digital Syndromeen_US
dc.subjectHaploinsufficiencyen_US
dc.subjectNonsense Mutationen_US
dc.titleNovel FGF10 mutation in autosomal dominant aplasia of lacrimal and salivary glandsen_US
dc.titleNovel FGF10 mutation in autosomal dominant aplasia of lacrimal and salivary glands
dc.typeArticleen_US

Dosyalar

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu
PubMed İndeksli Yayın Koleksiyonu
Scopus İndeksli Yayınlar Koleksiyonu