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Titre du document / Document title

Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2

Auteur(s) / Author(s)

JAKOBSEN Linda P. (1) ; ULLMANN Reinhard (2) ; CHRISTENSEN Steen B. (3) ; JENSEN Karl Erik (4) ; MØLSTED Kirsten (5) ; HENRIKSEN Karen F. (6) ; HANSEN Claus (6) ; KNUDSEN Mary A. (1) ; LARSEN Lars A. (6) ; TOMMERUP Niels (6) ; TÜMER Zeynep (6) ;

Affiliation(s) du ou des auteurs / Author(s) Affiliation(s)

(1) Department of Plastic and Reconstructive Surgery and Burns Unit, Rigshospitalet, University Hospital of Copenhagen, Copenhagen, DANEMARK
(2) Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, ALLEMAGNE
(3) Department of Orthopaedic Surgery, Section of Paediatric Orthopaedics, Rigshospitalet, University Hospital of Copenhagen, Copenhagen, DANEMARK
(4) Department of Diagnostic Radiology, Rigshospitalet, University Hospital of Copenhagen, Copenhagen, DANEMARK
(5) Copenhagen Cleft Palate Centre, Copenhagen, DANEMARK
(6) Wilhelm Johannsen Centre for Functional Genome Research, Department of Medical Biochemistry and Genetics, Panum Institute, Copenhagen, DANEMARK

Résumé / Abstract

Background: The Pierre Robin sequence (PRS), consisting of cleft palate, micrognathia and glossoptosis, can be seen as part of the phenotype in other Mendelian syndromes-for instance, campomelic dysplasia (CD) which is caused by SOX9 mutations-but the aetiology of non-syndromic PRS has not yet been unravelled. Objective: To gain more insight into the aetiology of PRS by studying patients with PRS using genetic and cytogenetic methods. Methods: 10 unrelated patients with PRS were investigated by chromosome analyses and bacterial artificial chromosome arrays. A balanced translocation was found in one patient, and the breakpoints were mapped with fluorescence in situ hybridisation and Southern blot analysis. All patients were screened for SOX9 and KCNJ2 mutations, and in five of the patients expression analysis of SOX9 and KCNJ2 was carried out by quantitative real-time PCR. Results: An abnormal balanced karyotype 46,XX, t(2;17)(q23.3;q24.3) was identified in one patient with PRS and the 17q breakpoint was mapped to 1.13 Mb upstream of the transcription factor SOX9 and 800 kb downstream of the gene KCNJ2. Furthermore, a significantly reduced SOX9 and KCNJ2 mRNA expression was observed in patients with PRS. Conclusion: Our findings suggest that non-syndromic PRS may be caused by both SOX9 and KCNJ2 dysregulation.

Revue / Journal Title

Journal of medical genetics    ISSN  0022-2593   CODEN JMDGAE 

Source / Source

2007, vol. 44, no6, pp. 381-386 [6 page(s) (article)] (26 ref.)

Langue / Language


Editeur / Publisher

BMJ Publishing Group, London, ROYAUME-UNI  (1964) (Revue)

Mots-clés anglais / English Keywords





Transcription factor


Pierre Robin syndrome


Mots-clés français / French Keywords





Facteur transcription


Pierre Robin syndrome


Mots-clés espagnols / Spanish Keywords





Factor transcripción


Pierre Robin síndrome


Localisation / Location

INIST-CNRS, Cote INIST : 12125, 35400014963657.0050

Nº notice refdoc (ud4) : 18787770

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