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Sökning: WFRF:(Thuresson Marie) > OTX2 duplications :

  • Celse, TristanUniv Grenoble Alpes, St Martin Dheres, France.;Inst Adv Biosci, Genet Epigenet & Therapies Infertil, INSERM 1209, CNRS UMR 5309, Grenoble, France.;CHU Grenoble Alpes, Serv Genet Genom & Procreat, Grenoble, France. (författare)

OTX2 duplications : a recurrent cause of oculo-auriculo-vertebral spectrum

  • Artikel/kapitelEngelska2023

Förlag, utgivningsår, omfång ...

  • 2022-11-11
  • BMJ Publishing Group Ltd,2023
  • printrdacarrier

Nummerbeteckningar

  • LIBRIS-ID:oai:DiVA.org:uu-512808
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-512808URI
  • https://doi.org/10.1136/jmg-2022-108678DOI

Kompletterande språkuppgifter

  • Språk:engelska
  • Sammanfattning på:engelska

Ingår i deldatabas

Klassifikation

  • Ämneskategori:ref swepub-contenttype
  • Ämneskategori:art swepub-publicationtype

Anmärkningar

  • In the publication, Anne-Charlotte Thuresson's surname is spelled Turesson
  • Background Oculo-auriculo-vertebral spectrum (OAVS) is the second most common cause of head and neck malformations in children after orofacial clefts. OAVS is clinically heterogeneous and characterised by a broad range of clinical features including ear anomalies with or without hearing loss, hemifacial microsomia, orofacial clefts, ocular defects and vertebral abnormalities. Various genetic causes were associated with OAVS and copy number variations represent a recurrent cause of OAVS, but the responsible gene often remains elusive.Methods We described an international cohort of 17 patients, including 10 probands and 7 affected relatives, presenting with OAVS and carrying a 14q22.3 microduplication detected using chromosomal microarray analysis. For each patient, clinical data were collected using a detailed questionnaire addressed to the referring clinicians. We subsequently studied the effects of OTX2 overexpression in a zebrafish model.Results We defined a 272 kb minimal common region that only overlaps with the OTX2 gene. Head and face defects with a predominance of ear malformations were present in 100% of patients. The variability in expressivity was significant, ranging from simple chondromas to severe microtia, even between intrafamilial cases. Heterologous overexpression of OTX2 in zebrafish embryos showed significant effects on early development with alterations in craniofacial development.Conclusions Our results indicate that proper OTX2 dosage seems to be critical for the normal development of the first and second branchial arches. Overall, we demonstrated that OTX2 genomic duplications are a recurrent cause of OAVS marked by auricular malformations of variable severity.

Ämnesord och genrebeteckningar

Biuppslag (personer, institutioner, konferenser, titlar ...)

  • Tingaud-Sequeira, AngèleUniv Bordeaux, INSERM U1211, Malad Rares Genet & Metab MRGM, Bordeaux, France. (författare)
  • Dieterich, KlausUniv Grenoble Alpes, St Martin Dheres, France.;INSERM, U1216, GIN, Grenoble, France. (författare)
  • Siegfried, GeraldineUniv Bordeaux, INSERM, Xenofish Platform U1312, BRIC, Bordeaux, France. (författare)
  • Lecaignec, CédricCHU Toulouse Hop Purpan, Inst Federatif Biol IFB, Genet Med, Toulouse, France.;Univ Toulouse, Toulouse NeuroImaging Ctr, UPS, INSERM, Toulouse, France. (författare)
  • Bouneau, LaurenceCHU Toulouse Hop Purpan, Inst Federatif Biol IFB, Genet Med, Toulouse, France. (författare)
  • Fannemel, MadeleineOslo Univ Hosp, Dept Med Genet, Oslo, Norway. (författare)
  • Salaun, GaelleCHU Estaing, Cytogenet Med, Clermont Ferrand, France.;Univ Clermont Auvergne, INSERM, U1240 Imagerie Mol & Strategies Theranost, Clermont Ferrand, France. (författare)
  • Laffargue, FannyCHU Estaing, Cytogenet Med, Clermont Ferrand, France. (författare)
  • Martinez, GuillaumeUniv Grenoble Alpes, St Martin Dheres, France.;Inst Adv Biosci, Genet Epigenet & Therapies Infertil, INSERM 1209, CNRS UMR 5309, Grenoble, France.;CHU Grenoble Alpes, Serv Genet Genom & Procreat, Grenoble, France. (författare)
  • Satre, VéroniqueUniv Grenoble Alpes, St Martin Dheres, France.;Inst Adv Biosci, Genet Epigenet & Therapies Infertil, INSERM 1209, CNRS UMR 5309, Grenoble, France.;CHU Grenoble Alpes, Serv Genet Genom & Procreat, Grenoble, France. (författare)
  • Vieville, GaelleCHU Grenoble Alpes, Serv Genet Genom & Procreat, Grenoble, France. (författare)
  • Bidart, MarieUniv Grenoble Alpes, St Martin Dheres, France.;Inst Adv Biosci, Genet Epigenet & Therapies Infertil, INSERM 1209, CNRS UMR 5309, Grenoble, France.;CHU Grenoble Alpes, Lab Genet Mol Malad Hereditaires & Oncol, Grenoble, France. (författare)
  • Soussi Zander, CeciliaUppsala universitet,Science for Life Laboratory, SciLifeLab,Genomik och neurobiologi(Swepub:uu)cecza759 (författare)
  • Thuresson, Ann-CharlotteUppsala universitet,Science for Life Laboratory, SciLifeLab,Genomik och neurobiologi(Swepub:uu)anncthur (författare)
  • Splitt, MirandaInst Genet Med, Northern Genet Serv, Newcastle Upon Tyne, Tyne & Wear, England. (författare)
  • Reboul, DorotheeCHU Nimes, Hop Caremeau, Lab Cytol Clin & Cytogenet, Nimes, France. (författare)
  • Chiesa, JeanCtr Hosp Reg Univ Nimes, UF Genet Med & Cytogenet, Nimes, France.;Fac Med Montpellier Nimes, Inst Biomol Max Mousseron IBMM, Lab Histol Embryol Cytogenet, CNRS UMR5247, Nimes, France. (författare)
  • Van Kien, Philippe KhauCtr Hosp Reg Univ Nimes, UF Genet Med & Cytogenet, Nimes, France.;Fac Med Montpellier Nimes, Inst Biomol Max Mousseron IBMM, Lab Histol Embryol Cytogenet, CNRS UMR5247, Nimes, France. (författare)
  • Godin, ManonNormandy Univ, Caen Univ Hosp, Reference Ctr Rare Dis Dev Anomalies & Malformat, Dept Genet,UNICAEN, Caen, France. (författare)
  • Gruchy, NicolasNormandy Univ, Caen Univ Hosp, Reference Ctr Rare Dis Dev Anomalies & Malformat, Dept Genet,UNICAEN, Caen, France. (författare)
  • Goel, HimanshuHunter Genet, Waratah, NSW, Australia.;Univ Newcastle, Callaghan, NSW 2308, Australia. (författare)
  • Palmer, ElizabethSydney Childrens Hosp Network Randwick, Ctr Clin Genet, Randwick, NSW 2031, Australia.;Fac Med & Hlth, Sch Clin Med, Discipline Paediat & Child Hlth, Randwick, NSW 2031, Australia. (författare)
  • Demetriou, KalliopeSydney Childrens Hosp Network Randwick, Ctr Clin Genet, Randwick, NSW 2031, Australia. (författare)
  • Shalhoub, CarolynSydney Childrens Hosp Network Randwick, Ctr Clin Genet, Randwick, NSW 2031, Australia.;Fac Med & Hlth, Sch Clin Med, Discipline Paediat & Child Hlth, Randwick, NSW 2031, Australia. (författare)
  • Rooryck-Thambo, CarolineUniv Bordeaux, INSERM U1211, Malad Rares Genet & Metab MRGM, Bordeaux, France.;21 CHU Bordeaux, Serv Genet Med, Bordeaux, France. (författare)
  • Coutton, CharlesUniv Grenoble Alpes, St Martin Dheres, France.;Inst Adv Biosci, Genet Epigenet & Therapies Infertil, INSERM 1209, CNRS UMR 5309, Grenoble, France.;CHU Grenoble Alpes, Serv Genet Genom & Procreat, Grenoble, France. (författare)
  • Univ Grenoble Alpes, St Martin Dheres, France.;Inst Adv Biosci, Genet Epigenet & Therapies Infertil, INSERM 1209, CNRS UMR 5309, Grenoble, France.;CHU Grenoble Alpes, Serv Genet Genom & Procreat, Grenoble, France.Univ Bordeaux, INSERM U1211, Malad Rares Genet & Metab MRGM, Bordeaux, France. (creator_code:org_t)

Sammanhörande titlar

  • Ingår i:Journal of Medical Genetics: BMJ Publishing Group Ltd60:6, s. 620-6260022-25931468-6244

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