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A comprehensive genetic analysis of Slovenian families with multiple cases of orofacial clefts reveals novel variants in the genes IRF6, GRHL3, and TBX22 [Elektronski vir]Slavec Janev, Lara, farmacevtka ...Although the aetiology of non-syndromic orofacial clefts (nsOFCs) is usually multifactorial, syndromic OFCs (syOFCs) are often caused by single mutations in known genes. Some syndromes, e.g., Van der ... Woude syndrome (VWS1; VWS2) and X-linked cleft palate with or without ankyloglossia (CPX), show only minor clinical signs in addition to OFC and are sometimes difficult to differentiate from nsOFCs. We recruited 34 Slovenian multi-case families with apparent nsOFCs (isolated OFCs or OFCs with minor additional facial signs). First, we examined IRF6, GRHL3, and TBX22 by Sanger or whole exome sequencing to identify VWS and CPX families. Next, we examined 72 additional nsOFC genes in the remaining families. Variant validation and co-segregation analysis were performed for each identified variant using Sanger sequencing, real-time quantitative PCR and microarray-based comparative genomic hybridization. We identified six disease-causing variants (three novel) in IRF6, GRHL3, and TBX22 in 21% of families with apparent nsOFCs, suggesting that our sequencing approach is useful for distinguishing syOFCs from nsOFCs. The novel variants, a frameshift variant in exon 7 of IRF6, a splice-altering variant in GRHL3, and a deletion of the coding exons of TBX22, indicate VWS1, VWS2, and CPX, respectively. We also identified five rare variants in nsOFC genes in families without VWS or CPX, but they could not be conclusively linked to nsOFC.Source: International journal of molecular sciences [Elektronski vir]. - ISSN 1422-0067 (Vol. 24, iss. 5, art. 4262, 2023, 19 str.)Type of material - e-article ; adult, seriousPublish date - 2023Language - englishCOBISS.SI-ID - 142479875
Author
Slavec Janev, Lara, farmacevtka |
Geršak, Ksenija |
Eberlinc, Andreja |
Hovnik, Tinka |
Lovrečić, Luca, 1977- |
Mlinarič-Raščan, Irena |
Karas Kuželički, Nataša
Topics
Genetika |
genetics |
family study |
non-syndromic orofacial cleft |
Van der Woude syndrome |
X-linked cleft palate with or without ankyloglossia |
IRF6 |
GRHL3 |
TBX22 |
whole exome sequencing |
etiologija nesindromskih orofacialnih razcepov |
družinska študija |
nesindromski orofacialni razcep |
Van der Woudov sindrom |
X-povezana razcepka neba z ali brez ankiloglosije |
sekvenciranje celotnega eksoma
Author | Slavec Janev, Lara, farmacevtka ... |
Title | A comprehensive genetic analysis of Slovenian families with multiple cases of orofacial clefts reveals novel variants in the genes IRF6, GRHL3, and TBX22 [Elektronski vir] |
Publication date | 2023-02-21 |
COBISS.SI-ID | 142479875 |
Publication version in repository | Publisher's version |
Publication licence | Creative Commons Attribution 4.0 International |
Embargo | Immediate publication for public |
Project(s) from which the publication was funded
Title | Acronym | Project ID | Funder |
---|---|---|---|
Metabolni in prirojeni dejavniki reproduktivnega zdravja, porod III | P3-0124-2020 |
Javna agencija za znanstvenoraziskovalno in inovacijsko dejavnost Republike Slovenije |
|
Novi izzivi folatne terapije v porodništvu in ginekologiji | J3-8207-2017 |
Javna agencija za znanstvenoraziskovalno in inovacijsko dejavnost Republike Slovenije |
|
Ministry of Education, Science, and Sport (MIZŠ) and the European Regional Development Fund OP20.05187 RI-SI-EATRIS | MR51882 |
Ministrstvo za izobraževanje, znanost in šport |
Files that belong to the publication
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https://www.mdpi.com/1422-0067/24/5/4262 |
https://repozitorij.uni-lj.si/IzpisGradiva.php?id=144418 |
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Database name | Field | Year |
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Links to authors' personal bibliographies | Links to information on researchers in the SICRIS system |
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Slavec Janev, Lara, farmacevtka | 51882 |
Geršak, Ksenija | 00814 |
Eberlinc, Andreja | 16149 |
Hovnik, Tinka | 28512 |
Lovrečić, Luca, 1977- | 23434 |
Mlinarič-Raščan, Irena | 12443 |
Karas Kuželički, Nataša | 21459 |
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