Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

Author

ALBERS, Cornelis A^{1 2 3} ; PAUL, Dirk S³ ; BREUNING, Martijn H⁸ ; DEBILI, Najet⁹ ; DELOUKAS, Panos³ ; FAVIER, Rémi⁹ ; FIEDLER, Janine^{10 5} ; HOBBS, Catherine M^{1 2} ; NI HUANG³ ; HURLES, Matthew E³ ; KIDDLE, Graham^{1 2} ; KRAPELS, Ingrid¹¹ ; SCHULZE, Harald^{4 5} ; NURDEN, Paquita¹² ; RUIVENKAMP, Claudia A. L⁸ ; SAMBROOK, Jennifer G^{1 2} ; SMITH, Kenneth^{13 14} ; STEMPLE, Derek L³ ; STRAUSS, Gabriele¹⁵ ; THYS, Chantal⁶ ; GEET, Chrisvan^{16 6} ; NEWBURY-ECOB, Ruth^{13 14} ; OUWEHAND, Willemh^{1 2 3} ; FRESON, Kathleen⁶ ; GHEVAERT, Cedric^{1 2} ; STEPHENS, Jonathan C^{1 2} ; SMETHURST, Peter A^{1 2} ; JOLLEY, Jennifer D^{1 2} ; CVEJIC, Ana^{1 2 3} ; KOSTADIMA, Myrto⁷ ; BERTONE, Paul⁷
[1] Department of Haematology, University of Cambridge, Cambridge, United Kingdom
[2] National Health Service (NHS) Blood and Transplant, Cambridge, United Kingdom
[3] Wellcome Trust Sanger Institute, Hinxton, Cambridge, United Kingdom
[4] Institute for Transfusion Medicine, Charite Universitatsmedizin, Berlin, Germany
[5] Laboratory for Pediatric Molecular Biology, Charite Universitatsmedizin, Berlin, Germany
[6] Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium
[7] European Molecular Biology Laboratory (EMBL)―European Bioinformatics Institute (EBI), Hinxton, Cambridge, United Kingdom
[8] Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands
[9] Institut National de la Sante et de la Recherche Médicale (INSERM) U790, Villejuif, France
[10] Department of Biology, Chemistry, and Pharmacy, Freie University Berlin, Berlin, Germany
[11] Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands
[12] Laboratoire d'Hématologie, Centre de Reference des Pathologies Plaquettaires, Hopital Xavier Arnozan, Pessac, France
[13] Division of Child Health, University of Bristol, Bristol, United Kingdom
[14] Department of Clinical Genetics, St Michael's Hospital, Bristol, United Kingdom
[15] Department of Pediatric Oncology and Hematology, Charite Universitätsmedizin, Berlin, Germany
[16] Department of Pediatrics, Universitair Ziekenhuis Leuven, Leuven, Belgium

Source

Nature genetics. 2012, Vol 44, Num 4, pp 435-439, 5 p ; ref : 23 ref

CODEN

NGENEC

ISSN

1061-4036

Scientific domain

Genetics

Publisher

Nature Publishing Group, New York, NY

Publication country

United States

Document type

Article

Language

English

Keyword (fr)

Exon Fréquence Hérédité Mutation complète Polymorphisme mononucléotide Sousunité Syndrome

Keyword (en)

Exon Frequency Inheritance(genetics) Null mutation Single nucleotide polymorphism Subunit Syndrome

Keyword (es)

Exón Frecuencia Herencia(genética) Mutación nula Polimorfismo mononucleótido Subunitad Síndrome

Classification

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 / 002B23 Medical genetics / 002B23E Complex syndromes

Discipline

Eukaryotes genetics. Biological and molecular evolution Medical genetics

Origin

Inist-CNRS

Database

PASCAL

INIST identifier

25767244

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