A novel DFNB 1 deletion allele supports the existence of a distant cis -regulatory region that controls GJB2 and GJB6 expression

Author

WILCH, E¹ ; AZAIEZ, H² ; HOEFSLOO, L¹² ; KREMERL, H¹³ ; KUBISCH, C⁷ ; LE MARECHAL, C¹⁴ ; PANDYA, A¹⁵ ; SARTORATO, E. L⁸ ; SCHNEIDER, E¹¹ ; VAN CAMP, G¹⁶ ; WUYTS, W¹⁶ ; SMITH, Rjh² ; FISHER, R. A³ ; FRIDERICIC, K. H¹⁷ ; ELFENBEIN, J⁴ ; MURGIA, A⁵ ; BIRKENHÄGER, R⁶ ; BOLZ, H⁷ ; DA SILVA-COSTA, S. M⁸ ; DEL CASTILLOI, I^{10 9} ; HAAF, T¹¹
[1] Genetics Program, Michigan State University, East Lansing MI 48824, United States
[2] Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology Research Laboratories, University of Iowa, Iowa City, IA 52242, United States
[3] Department of Pediatrics and Human Development, Michigan State University, East Lansing, MI 48824, United States
[4] Department of Communicative Sciences and Disorders, Michigan State University, East Lansing, MI 48824, United States
[5] Department of Pediatrics, University of Padua, 35128 Padua, Italy
[6] Department of Otorhinolaryngology - Head and Neck Surgery, University Medical Center Freiburg, 79106 Freiburg, Germany
[7] Institute of Human Genetics, Center for Molecular Medicine Cologne, University Hospital of Cologne, Cologne 50931, Germany
[8] Centro de Biologia Molecular e Engenharia Genética (CBMEG), Universidade Estadual de Campinas (UNICAMP), Sao Paolo, Brazil
[9] Unidad de Genética Molecular, Hospital Universitario Ramón y Cajal, Madrid, Spain
[10] Centro de Investigación Biomédica en Red, de Enfermedades Raras (CIBERER), Madrid, Spain
[11] Institute of Human Genetics, Johannes Gutenberg University Mainz, 55131 Mainz, Germany
[12] Nijmegen Centre of Molecular Life Sciences, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, Netherlands
[13] Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, Netherlands
[14] Université Européenne de Bretagne & Université de Brest, INSERM U613, Centre Hospitalier Universitaire (CHU) de Brest, Brest, France
[15] Department of Human and Molecular Genetics, Virginia Commonwealth University, Richmond, VA 23298 0033, United States
[16] Department of Medical Genetics, University and University Hospital of Antwerp, Antwerp, Belgium
[17] Department of Microbiology and Molecular Genetics, Michigan State University, East Lansing, MI 48824, United States

Source

Clinical genetics. 2010, Vol 78, Num 3, pp 267-274, 8 p ; ref : 27 ref

CODEN

CLGNAY

ISSN

0009-9163

Scientific domain

Genetics

Publisher

Wiley-Blackwell, Oxford

Publication country

United Kingdom

Document type

Article

Language

English

Author keyword

DFNB1 GJB2 GJB6 connexin 26 connexin 30 gene expression regulation sensorineural hearing loss sequence deletion

Keyword (fr)

Allèle Connexine Contrôle Délétion Expression génique Génétique Homme Réglementation Régulation Surdité cochléaire Surdité de perception Aberration chromosomique Pathologie ORL Pathologie de l'oreille interne Trouble de l'audition

Keyword (en)

Allele Connexin Check Deletion Gene expression Genetics Human Regulation Regulation(control) Sensory hearing loss Perception hearing loss Chromosomal aberration ENT disease Internal ear disease Auditory disorder

Keyword (es)

Alelo Connexina Control Deleción Expresión genética Genética Hombre Reglamentación Regulación Sordera coclear Sordera percepción Aberración cromosómica ORL patología Oido interno patología Trastorno auditivo

Classification

Pascal

002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology

Pascal

002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution

Pascal

002 Biological and medical sciences / 002B Medical sciences / 002B10 Otorhinolaryngology. Stomatology / 002B10D Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology / 002B10D02 Non tumoral diseases

Pascal

002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling

Discipline

Eukaryotes genetics. Biological and molecular evolution Medical genetics Molecular and cell biology Otorhinolaryngology. Stomatology

Origin

Inist-CNRS

Database

PASCAL

INIST identifier

23075116

Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS