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Sökning: L773:0022 2593 OR L773:1468 6244 > OTX2 duplications :

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

Celse, Tristan (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.
Tingaud-Sequeira, Angèle (författare)
Univ Bordeaux, INSERM U1211, Malad Rares Genet & Metab MRGM, Bordeaux, France.
Dieterich, Klaus (författare)
Univ Grenoble Alpes, St Martin Dheres, France.;INSERM, U1216, GIN, Grenoble, France.
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Siegfried, Geraldine (författare)
Univ Bordeaux, INSERM, Xenofish Platform U1312, BRIC, Bordeaux, France.
Lecaignec, Cédric (författare)
CHU Toulouse Hop Purpan, Inst Federatif Biol IFB, Genet Med, Toulouse, France.;Univ Toulouse, Toulouse NeuroImaging Ctr, UPS, INSERM, Toulouse, France.
Bouneau, Laurence (författare)
CHU Toulouse Hop Purpan, Inst Federatif Biol IFB, Genet Med, Toulouse, France.
Fannemel, Madeleine (författare)
Oslo Univ Hosp, Dept Med Genet, Oslo, Norway.
Salaun, Gaelle (författare)
CHU Estaing, Cytogenet Med, Clermont Ferrand, France.;Univ Clermont Auvergne, INSERM, U1240 Imagerie Mol & Strategies Theranost, Clermont Ferrand, France.
Laffargue, Fanny (författare)
CHU Estaing, Cytogenet Med, Clermont Ferrand, France.
Martinez, Guillaume (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.
Satre, Véronique (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.
Vieville, Gaelle (författare)
CHU Grenoble Alpes, Serv Genet Genom & Procreat, Grenoble, France.
Bidart, Marie (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, Lab Genet Mol Malad Hereditaires & Oncol, Grenoble, France.
Soussi Zander, Cecilia (författare)
Uppsala universitet,Science for Life Laboratory, SciLifeLab,Genomik och neurobiologi
Thuresson, Ann-Charlotte (författare)
Uppsala universitet,Science for Life Laboratory, SciLifeLab,Genomik och neurobiologi
Splitt, Miranda (författare)
Inst Genet Med, Northern Genet Serv, Newcastle Upon Tyne, Tyne & Wear, England.
Reboul, Dorothee (författare)
CHU Nimes, Hop Caremeau, Lab Cytol Clin & Cytogenet, Nimes, France.
Chiesa, Jean (författare)
Ctr 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.
Van Kien, Philippe Khau (författare)
Ctr 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.
Godin, Manon (författare)
Normandy Univ, Caen Univ Hosp, Reference Ctr Rare Dis Dev Anomalies & Malformat, Dept Genet,UNICAEN, Caen, France.
Gruchy, Nicolas (författare)
Normandy Univ, Caen Univ Hosp, Reference Ctr Rare Dis Dev Anomalies & Malformat, Dept Genet,UNICAEN, Caen, France.
Goel, Himanshu (författare)
Hunter Genet, Waratah, NSW, Australia.;Univ Newcastle, Callaghan, NSW 2308, Australia.
Palmer, Elizabeth (författare)
Sydney 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.
Demetriou, Kalliope (författare)
Sydney Childrens Hosp Network Randwick, Ctr Clin Genet, Randwick, NSW 2031, Australia.
Shalhoub, Carolyn (författare)
Sydney 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.
Rooryck-Thambo, Caroline (författare)
Univ Bordeaux, INSERM U1211, Malad Rares Genet & Metab MRGM, Bordeaux, France.;21 CHU Bordeaux, Serv Genet Med, Bordeaux, France.
Coutton, Charles (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.
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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)
2022-11-11
2023
Engelska.
Ingår i: Journal of Medical Genetics. - : BMJ Publishing Group Ltd. - 0022-2593 .- 1468-6244. ; 60:6, s. 620-626
Relaterad länk:
https://urn.kb.se/re...
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https://doi.org/10.1...
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  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
Stäng  
  • 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

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)

Nyckelord

Gene Duplication
Genomics
Human Genetics
Congenital
Hereditary
Neonatal Diseases and Abnormalities

Publikations- och innehållstyp

ref (ämneskategori)
art (ämneskategori)

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