Monogenic Versus Multifactorial Inheritance in the Development of Isolated Cleft Palate : A Whole Genome Sequencing Study

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dc.contributor.authorLace, Baiba
dc.contributor.authorPajusalu, Sander
dc.contributor.authorLivcane, Diana
dc.contributor.authorGrīnfelde, Ieva
dc.contributor.authorAkota, Ilze
dc.contributor.authorMauliņa, Ieva
dc.contributor.authorBarkāne, Biruta
dc.contributor.authorStavusis, Janis
dc.contributor.authorInashkina, Inna
dc.contributor.institutionRīga Stradiņš University
dc.date.accessioned2022-12-01T12:40:02Z
dc.date.available2022-12-01T12:40:02Z
dc.date.issued2022-02-24
dc.descriptionFunding Information: This project was funded by the Latvian Research Council, Grant no: lzp-2020/2-0374 “Deciphering the genetic mechanisms of the individuals with isolated cleft palate by whole genome sequencing”. SP was supported by an Estonian Research Council grant (MOBTP175). Publisher Copyright: Copyright © 2022 Lace, Pajusalu, Livcane, Grinfelde, Akota, Mauliņa, Barkāne, Stavusis and Inashkina.
dc.description.abstractCraniofacial morphogenesis is highly complex, as is the anatomical region involved. Errors during this process, resulting in orofacial clefts, occur in more than 400 genetic syndromes. Some cases of cleft lip and/or palate (CLP) are caused by mutations in single genes; however, complex interactions between genetic and environmental factors are considered to be responsible for the majority of non-syndromic CLP development. The aim of the current study was to identify genetic risk factors in patients with isolated cleft palate (CP) by whole genome sequencing. Patients with isolated CP (n = 30) recruited from the Riga Cleft Lip and Palate Centre, Institute of Stomatology, Riga, were analyzed by whole genome sequencing. Pathogenic or likely pathogenic variants were discovered in genes associated with CP (TBX22, COL2A1, FBN1, PCGF2, and KMT2D) in five patients; hence, rare disease variants were identified in 17% of patients with non-syndromic isolated CP. Our results were relevant to routine genetic counselling practice and genetic testing recommendations. Based on our data, we propose that all newborns with orofacial clefts should be offered genetic testing, at least for a panel of known CLP genes. Only if the results are negative and there is no suggestive family history or additional clinical symptoms (which would support additional exome or genome-wide investigation), should multifactorial empiric recurrence risk prediction tools be applied for families.en
dc.description.statusPeer reviewed
dc.format.extent6
dc.format.extent609472
dc.identifier.citationLace, B, Pajusalu, S, Livcane, D, Grīnfelde, I, Akota, I, Mauliņa, I, Barkāne, B, Stavusis, J & Inashkina, I 2022, 'Monogenic Versus Multifactorial Inheritance in the Development of Isolated Cleft Palate : A Whole Genome Sequencing Study', Frontiers in Genetics, vol. 13, 828534. https://doi.org/10.3389/fgene.2022.828534
dc.identifier.doi10.3389/fgene.2022.828534
dc.identifier.issn1664-8021
dc.identifier.urihttps://dspace.rsu.lv/jspui/handle/123456789/9816
dc.identifier.urlhttp://www.scopus.com/inward/record.url?scp=85126266915&partnerID=8YFLogxK
dc.language.isoeng
dc.relation.ispartofFrontiers in Genetics
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectisolated cleft palate
dc.subjectPCGF2
dc.subjectrare monogenic diseases
dc.subjectrecurrence risk
dc.subjectwhole genome sequencing
dc.subject3.2 Clinical medicine
dc.subject3.1 Basic medicine
dc.subject1.1. Scientific article indexed in Web of Science and/or Scopus database
dc.subjectMolecular Medicine
dc.subjectGenetics
dc.subjectGenetics(clinical)
dc.titleMonogenic Versus Multifactorial Inheritance in the Development of Isolated Cleft Palate : A Whole Genome Sequencing Studyen
dc.type/dk/atira/pure/researchoutput/researchoutputtypes/contributiontojournal/article

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