PMID: 9182765May 30, 1997Paper

Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia

Cell
S MundlosB R Olsen

Abstract

Cleidocranial dysplasia (CCD) is an autosomal-dominant condition characterized by hypoplasia/aplasia of clavicles, patent fontanelles, supernumerary teeth, short stature, and other changes in skeletal patterning and growth. In some families, the phenotype segregates with deletions resulting in heterozygous loss of CBFA1, a member of the runt family of transcription factors. In other families, insertion, deletion, and missense mutations lead to translational stop codons in the DNA binding domain or in the C-terminal transactivating region. In-frame expansion of a polyalanine stretch segregates in an affected family with brachydactyly and minor clinical findings of CCD. We conclude that CBFA1 mutations cause CCD and that heterozygous loss of function is sufficient to produce the disorder.

References

May 1, 1987·American Journal of Medical Genetics·D O SillenceP B Selby
Oct 30, 1980·Nature·C Nüsslein-Volhard, E Wieschaus
Feb 10, 1995·Cell·A ErlebacherR Derynck
Jul 15, 1993·Proceedings of the National Academy of Sciences of the United States of America·E OgawaY Ito
Jul 1, 1993·American Journal of Medical Genetics·H NienhausW Henn
Apr 16, 1996·Proceedings of the National Academy of Sciences of the United States of America·Q WangN A Speck

❮ Previous
Next ❯

Citations

Sep 1, 1997·Developmental Dynamics : an Official Publication of the American Association of Anatomists·L F HuangS Mundlos
Apr 23, 1999·Developmental Dynamics : an Official Publication of the American Association of Anatomists·M InadaT Komori
Jul 17, 1998·Developmental Genetics·G Karsenty
Feb 23, 2000·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·K Barton, G Nucifora
Nov 21, 2000·Developmental Dynamics : an Official Publication of the American Association of Anatomists·P Ducy
Sep 1, 2000·Journal of Cellular Biochemistry·N SelvamuruganN C Partridge
Jul 27, 2000·Journal of Cellular Physiology·H DrissiG S Stein
May 2, 2002·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Wen-Fang WangBjorn R Olsen
May 18, 2001·Developmental Dynamics : an Official Publication of the American Association of Anatomists·S M Orestes-CardosoA Berdal
Apr 25, 2001·Genes, Chromosomes & Cancer·N SpiekerR Versteeg
Sep 24, 2004·International Journal of Cancer. Journal International Du Cancer·Chouhei SakakuraYoshiaki Ito
Apr 23, 2002·Journal of Cellular Biochemistry·Kannan ThirunavukkarasuJude E Onyia
Sep 5, 2002·Journal of Cellular Biochemistry·Toshihisa Komori
Aug 14, 2001·Journal of Cellular Biochemistry·Z S XiaoL D Quarles
Nov 28, 2001·International Journal of Hematology·M OsatoY Ito
Nov 28, 2001·International Journal of Hematology·R B Lorsbach, J R Downing
May 10, 2006·Journal of Applied Genetics·Aneta Olszewska
Dec 5, 2009·Journal of Orofacial Orthopedics = Fortschritte Der Kieferorthopädie : Organ/official Journal Deutsche Gesellschaft Für Kieferorthopädie·Stefan LossdörferAndreas Jäger
Feb 6, 2010·Journal of Orofacial Orthopedics = Fortschritte Der Kieferorthopädie : Organ/official Journal Deutsche Gesellschaft Für Kieferorthopädie·Birgit Rath-DeschnerWerner Götz
Dec 15, 2004·HNO·I GolanD Müssig
May 9, 2009·Calcified Tissue International·Hee-Jung LeeJong-Young Lee
Dec 7, 2011·Calcified Tissue International·Bojian LiangGuang Zhou
May 1, 2008·Pediatric Radiology·Guido E GonzalezHugh D Curtin
Jan 22, 1998·Mammalian Genome : Official Journal of the International Mammalian Genome Society·V GeoffroyG Karsenty
May 13, 2008·Journal of Bone and Mineral Metabolism·Riko NishimuraToshiyuki Yoneda
Apr 22, 2010·Journal of Bone and Mineral Metabolism·Begoña PinedaMiguel Ángel García-Pérez
Jul 8, 2010·Journal of Bone and Mineral Metabolism·Hironori HojoUng-il Chung
Sep 28, 2012·Journal of Bone and Mineral Metabolism·Kunihiro HisadaToshiyuki Yoneda
Oct 20, 2006·Mund-, Kiefer- und Gesichtschirurgie : MKG·U BaumertE Rose
Nov 10, 2007·Mund-, Kiefer- und Gesichtschirurgie : MKG·Tobias AchOliver Driemel
Sep 27, 2013·European Archives of Paediatric Dentistry : Official Journal of the European Academy of Paediatric Dentistry·R P AnthonappaA B M Rabie
Jan 13, 2004·Biochemical and Biophysical Research Communications·Qing-Lin LiSuk-Chul Bae
Jun 11, 2005·Bone·Hansjoerg Keller, Michaela Kneissel
Jul 21, 2004·Gene Expression Patterns : GEP·Maria Vega FloresShannon Fisher
Dec 8, 2004·Brain Research. Molecular Brain Research·Yang TangFrank R Sharp

❮ Previous
Next ❯

Related Concepts

Related Feeds

Cell eTOC

Cell is a scientific journal publishing research across a broad range of disciplines within the life sciences field. Discover the latest research from Cell here.