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dc.contributor.authorPini, Sara
dc.contributor.authorNapoli, Floriana Maria
dc.contributor.authorTagliafico, Enrico
dc.contributor.authorLa Marca, Antonio
dc.contributor.authorBertucci, Emma
dc.contributor.authorSalsi, Valentina
dc.contributor.authorTupler, Rossella
dc.date.accessioned2024-03-08T21:43:44Z
dc.date.available2024-03-08T21:43:44Z
dc.date.issued2022-10-23
dc.identifier.citationPini S, Napoli FM, Tagliafico E, La Marca A, Bertucci E, Salsi V, Tupler R. De novo variants and recombination at 4q35: Hints for preimplantation genetic testing in facioscapulohumeral muscular dystrophy. Clin Genet. 2023 Feb;103(2):242-246. doi: 10.1111/cge.14250. Epub 2022 Oct 23. PMID: 36250762; PMCID: PMC10092082.en_US
dc.identifier.eissn1399-0004
dc.identifier.doi10.1111/cge.14250en_US
dc.identifier.pmid36250762
dc.identifier.urihttp://hdl.handle.net/20.500.14038/53145
dc.description.abstractFacioscapulohumeral muscular dystrophy (FSHD) has been associated with the deletion of an integral number of 3.3 kb units of the polymorphic D4Z4 repeat array at 4q35. The prenatal identification of this defect can be carried out on chorionic villi or amniocytes, whereas preimplantation genetic testing for monogenic disorders (PGT-M) requires molecular markers linked to the D4Z4 allele of reduced size. In this context the reliability of this association is crucial. To test the informativeness of the nearby polymorphic markers we investigated recombination at 4q35 using the polymorphic markers D4S1523, D4S163 and D4S139 positioned at 0.55, 0.5 and 0.21 Mb proximal to the D4Z4 array respectively. We determined the probability of recombination events to occur in the D4Z4-D4S1523 interval considering 86 subjects belonging to 12 FSHD families and found a recombination frequency of 14% between D4Z4 and D4S1523. Our study also revealed the occurrence of de novo variants and germline mosaicism. These findings highlight the recombinogenic nature of the 4q subtelomere and indicate that caution should be taken when interpreting PGT-M results. It is advisable that a woman who underwent a PGT-M cycle undertakes a prenatal DNA analysis to confirm the size of the D4Z4 alleles carried by the fetus.en_US
dc.language.isoenen_US
dc.relation.ispartofClinical Geneticsen_US
dc.relation.urlhttps://doi.org/10.1111/cge.14250en_US
dc.rightsThis is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made. © 2022 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.en_US
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 International*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/*
dc.subjectfacioscapulohumeral muscular dystrophyen_US
dc.subjectgenetic counselingen_US
dc.subjectlinkage analysisen_US
dc.subjectpolymorphic markersen_US
dc.subjectpreimplantation genetic testingen_US
dc.subjectprenatal diagnosisen_US
dc.subjectrecombination frequencyen_US
dc.titleDe novo variants and recombination at 4q35: Hints for preimplantation genetic testing in facioscapulohumeral muscular dystrophyen_US
dc.typeJournal Articleen_US
dc.source.journaltitleClinical genetics
dc.source.volume103
dc.source.issue2
dc.source.beginpage242
dc.source.endpage246
dc.source.countryDenmark
dc.identifier.journalClinical genetics
refterms.dateFOA2024-03-08T21:43:46Z
dc.contributor.departmentLi Weibo Institute for Rare Diseases Researchen_US
dc.contributor.departmentMolecular, Cell and Cancer Biologyen_US


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This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any
medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
© 2022 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.
Except where otherwise noted, this item's license is described as This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made. © 2022 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.