The modified shields classification and 12 families with defined dspp mutations

Basit Öğe Kaydı
dc.contributor.authorSeymen, Figen
dc.contributor.authorSimmer, James P.
dc.contributor.authorZhang, Hong
dc.contributor.authorMoon, Sophie J. H.
dc.contributor.authorDonnelly, Lori A-J.
dc.contributor.authorLee, Yuan-Ling
dc.contributor.authorKoruyucu, Mine
dc.contributor.authorChan, Hui-Chen
dc.contributor.authorLee, Kevin Y.
dc.contributor.authorWu, Suwei
dc.contributor.authorHsiang, Chia-Lan
dc.contributor.authorTsai, Anthony T. P.
dc.date.accessioned2022-06-06T07:00:28Z
dc.date.available2022-06-06T07:00:28Z
dc.date.issued2022en_US
dc.departmentFakülteler, Diş Hekimliği Fakültesi, Çocuk Diş Hekimliği Ana Bilim Dalıen_US
dc.description.abstractMutations in Dentin Sialophosphoprotein (DSPP) are known to cause, in order of increasing severity, dentin dysplasia type-II (DD-II), dentinogenesis imperfecta type-II (DGI-II), and dentino-genesis imperfecta type-III (DGI-III). DSPP mutations fall into two groups: a 5′-group that affects protein targeting and a 3′-group that shifts translation into the −1 reading frame. Using whole-exome sequence (WES) analyses and Single Molecule Real-Time (SMRT) sequencing, we identified disease-causing DSPP mutations in 12 families. Three of the mutations are novel: c.53T>C/p.(Val18Ala); c.3461delG/p.(Ser1154Metfs*160); and c.3700delA/p.(Ser1234Alafs*80). We propose genetic analysis start with WES analysis of proband DNA to identify mutations in COL1A1 and COL1A2 causing dominant forms of osteogenesis imperfecta, 5′-DSPP mutations, and 3′-DSPP frameshifts near the margins of the DSPP repeat region, and SMRT sequencing when the disease-causing mutation is not identified. After reviewing the literature and incorporating new information showing distinct differences in the cell pathology observed between knockin mice with 5′-Dspp or 3′-Dspp mutations, we propose a modified Shields Classification based upon the causative mutation rather than phenotypic severity such that patients identified with 5′-DSPP defects be diagnosed as DGI-III, while those with 3′-DSPP defects be diagnosed as DGI-II.en_US
dc.identifier.citationSimmer, J. P., Zhang, H., Moon, S. J., Donnelly, L. A., Lee, Y. L., Seymen, F., ... & Hu, J. C. C. (2022). The modified shields classification and 12 families with defined DSPP mutations. Genes, 13(5), 858.en_US
dc.identifier.issn2073-4425
dc.identifier.issue5en_US
dc.identifier.scopus2-s2.0-85130627635
dc.identifier.scopusqualityQ2
dc.identifier.urihttps://hdl.handle.net/20.500.12939/2464
dc.identifier.volume13en_US
dc.identifier.wosWOS:000803357000001
dc.identifier.wosqualityQ2
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorSeymen, Figen Figen
dc.language.isoen
dc.relation.ispartofGenes
dc.relation.isversionof10.3390/genes13050858en_US
dc.relation.publicationcategoryMakale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectDentin Dyspla-Siaen_US
dc.subjectDentinogenesis Imperfectaen_US
dc.subjectDSPP Mutationsen_US
dc.subjectEnamel Malformationsen_US
dc.subjectShields Classificationen_US
dc.subjectSingle Molecule Real-Time (SMRT) DNA Sequencingen_US
dc.subjectWhole-Exome Sequencing (WES)en_US
dc.titleThe modified shields classification and 12 families with defined dspp mutations
dc.typeArticle

Dosyalar

Orijinal paket
Listeleniyor 1 - 1 / 1
Küçük Resim
İsim:
genes-13-00858.pdf
Boyut:
9.9 MB
Biçim:
Adobe Portable Document Format
Açıklama:
Tam Metin / Full Text
İndir
Lisans paketi
Listeleniyor 1 - 1 / 1
[ X ]
İsim:
license.txt
Boyut:
1.44 KB
Biçim:
Item-specific license agreed upon to submission
Açıklama:
İndir

Koleksiyon

Scopus İndeksli Yayınlar Koleksiyonu
Diş Hekimliği Fakültesi Yayın Koleksiyonu
PubMed İndeksli Yayınlar Koleksiyonu
WoS İndeksli Yayınlar Koleksiyonu