Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome

Nature Genetics
K KainulainenL Peltonen

Abstract

Mutations in the gene coding for fibrillin on chromosome 15 (FBN1) are known to cause Marfan syndrome (MFS). A related disorder, dominant ectopia lentis (EL), has also been linked genetically to this locus. We now describe ten novel mutations of FBN1 resulting in strikingly different phenotypes. In addition to classic MFS, FBN1 mutations also give rise to EL and a severe neonatal form of MFS. Interestingly, the neonatal MFS mutations are clustered in one particular region of FBN1, possibly providing new insights into genotype-phenotype comparisons.

References

Jun 1, 1979·Biophysical Journal·P Y Chou, G D Fasman
Dec 1, 1977·Proceedings of the National Academy of Sciences of the United States of America·F SangerA R Coulson
Apr 5, 1979·The New England Journal of Medicine·R E Pyeritz, V A McKusick
Oct 1, 1992·Current Opinion in Cell Biology·D F MosherJ A McDonald
Jul 1, 1992·Proceedings of the National Academy of Sciences of the United States of America·K KainulainenL Peltonen
Jul 25, 1991·Nature·Cheryl MaslenL Y Sakai
May 9, 1991·Nature·Penny A HandfordG G Brownlee
Jul 11, 1990·Nucleic Acids Research·J L CasanovaP Kourilsky
Oct 4, 1990·The New England Journal of Medicine·K KainulainenL Peltonen
Apr 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·M OritaT Sekiya
Mar 1, 1988·American Journal of Medical Genetics·P BeightonV A McKusick
May 1, 1988·Acta paediatrica Scandinavica·J SchollinK H Gustavson
Dec 1, 1986·The Journal of Cell Biology·L Y SakaiE Engvall
Mar 1, 1984·Proceedings of the National Academy of Sciences of the United States of America·A KomoriyaJ Schlessinger

Citations

Aug 21, 2007·Calcified Tissue International·Tatjana Barisic-DujmovicStephen H Clark
Jun 11, 2009·Cell and Tissue Research·Francesco Ramirez, L Y Sakai
Oct 25, 2006·Journal of Human Genetics·Takeshi Mizuguchi, Naomichi Matsumoto
Aug 1, 1995·The International Journal of Biochemistry & Cell Biology·Cay M Kielty, C Adrian Shuttleworth
Nov 9, 2000·Matrix Biology : Journal of the International Society for Matrix Biology·Dianna M MilewiczC Boyd
Nov 1, 1996·Matrix Biology : Journal of the International Society for Matrix Biology·J Engel
Jun 1, 1996·Current Opinion in Genetics & Development·F Ramirez
Sep 11, 2002·Cardiology in the Young·Gijs J NollenBarbara J M Mulder
Oct 31, 2002·European Journal of Human Genetics : EJHG·G Collod-Beroud, C Boileau
May 12, 1994·The New England Journal of Medicine·U Francke, H Furthmayr
Jan 1, 1996·Nucleic Acids Research·G CollodC Boileau
Feb 21, 1998·Nucleic Acids Research·G Collod-BeroudC Boileau
Apr 3, 2009·Nucleic Acids Research·François-Olivier DesmetC Beroud
Mar 17, 2005·Clinical Dysmorphology·Henriette ter HeideTammo Delhaas
Feb 1, 1996·Journal of Paediatrics and Child Health·G Suthers
Nov 1, 1995·Acta Paediatrica·K HanséusU Kristoffersson
Jan 1, 1997·Archives of Disease in Childhood·K J LipscombR Harris
Oct 26, 2000·The British Journal of Ophthalmology·J L AshworthD McLeod
Mar 31, 2006·Journal of Medical Genetics·Peter N RobinsonM Godfrey
May 1, 1996·Journal of Medical Genetics·J R Gray, S J Davies
Aug 1, 1996·Journal of Medical Genetics·L C AdèsR I Richard
Sep 1, 1996·Journal of Medical Genetics·M WangM Godfrey
Jan 14, 2000·Journal of Medical Genetics·Peter N Robinson, M Godfrey
Apr 25, 2000·Annual Review of Medicine·R E Pyeritz
Sep 12, 2007·Annual Review of Medicine·Daniel P Judge, H C Dietz
Dec 4, 2010·Fibrogenesis & Tissue Repair·Jacopo OlivieriFrancesco Ramirez
Jul 8, 2000·Cell Structure and Function·E Arteaga-SolisF Ramirez
Mar 13, 2013·International Ophthalmology·Mridu ChaudhryAakarsh Bajaj
Aug 17, 2004·Critical Reviews in Clinical Laboratory Sciences·Marko HyytiäinenJorma Keski-Oja
Aug 12, 1999·Annals of Medicine·F RamirezL Pereira
Jun 1, 1995·Annals of Medicine·M C JohnsonA W Strauss
Aug 6, 2014·Journal of Molecular and Cellular Cardiology·Tao TangLisa R Tannock
Oct 10, 2015·Journal of Cell Communication and Signaling·Karina A Zeyer, D P Reinhardt
Jun 10, 2000·Chest·B C Starcher
Apr 1, 2004·American Journal of Medical Genetics. Part a·L C AdèsBruce Bennetts
Dec 20, 2015·BMC Medical Genetics·Lena TjeldhornBenedicte Paus
Nov 25, 2015·Biochemical and Biophysical Research Communications·Ju Yeon ChoiSeonghee Park
Apr 22, 2008·Journal of Forensic and Legal Medicine·Rena HiraniRoger W Byard
May 1, 2007·Current Opinion in Genetics & Development·Francesco Ramirez, H C Dietz
Oct 16, 2007·Human Mutation·Melissa Yana FredericG Collod-Beroud
May 14, 2011·Clinical Genetics·L FaivreG Jondeau
May 8, 2013·Journal of Orthopaedic Research : Official Publication of the Orthopaedic Research Society·Bo HeJiake Xu
Sep 17, 2013·American Journal of Medical Genetics. Part a·Toshiki TakenouchiKenjiro Kosaki
Feb 8, 2014·Journal of Forensic Sciences·Basappa S HugarAkshith Raj S Shetty
Jan 19, 2010·American Journal of Medical Genetics. Part a·Ariel BrautbarJohn W Belmont
Sep 27, 2000·Journal of Manipulative and Physiological Therapeutics·J R TulingP McCord
Dec 10, 1999·Cardiology Clinics·P Tsipouras, D I Silverman
Mar 26, 1999·American Journal of Human Genetics·T RantamäkiL Peltonen
Aug 19, 2015·Mutation Research. Reviews in Mutation Research·Karina A Zeyer, D P Reinhardt
Oct 22, 2013·Seminars in Ophthalmology·Mohammad Ali Sadiq, Deborah Vanderveen
Mar 31, 2015·Experimental Eye Research·Angelica R Harper, Jody A Summers
Mar 1, 2017·Journal of Korean Medical Science·Shin Yi JangDuk Kyung Kim
Oct 23, 1997·American Journal of Medical Genetics·S K ParidaB D Hall
Mar 29, 2018·European Journal of Ophthalmology·Daniel J Salchow, Petra Gehle
Jan 5, 1999·The Journal of Biological Chemistry·M C ZhangJ M Davidson
Mar 24, 1995·The Journal of Biological Chemistry·Penny A HandfordCay M Kielty
Mar 29, 1996·American Journal of Medical Genetics·E A PutnamD M Milewicz
Jan 15, 1995·Circulation·R M PayneA W Strauss
Sep 21, 2017·PloS One·Petra GehleDaniel J Salchow
Jun 6, 2006·Prenatal Diagnosis·K R M LopesA Azancot
Jan 15, 2005·The Journal of Biological Chemistry·Sacha A JensenPenny A Handford
Mar 17, 2007·American Journal of Medical Genetics. Part a·Mustafa TekinAtakan Conba
Apr 17, 2008·American Journal of Medical Genetics. Part a·Moira BlythDavid Bunyan
Aug 28, 1995·American Journal of Medical Genetics·T AoyamaH Furthmayr
Oct 15, 1994·American Journal of Medical Genetics·M J EdwardsJ C Mulley
Oct 14, 2005·American Journal of Medical Genetics. Part a·K M SummersL C Adès
Feb 21, 2006·The Journal of Biological Chemistry·Elizabeth G CantyKarl E Kadler
Dec 30, 2014·Bone Research·Jie ShenDi Chen
Dec 6, 2002·Current Opinion in Cardiology·Sumera N HashamDianna M Milewicz
Jan 10, 1997·The Journal of Biological Chemistry·D P ReinhardtL Y Sakai
Mar 20, 1999·The Journal of Biological Chemistry·T M RittyR P Mecham
Nov 18, 2017·The British Journal of Ophthalmology·Catharina BuschDaniel J Salchow
Dec 30, 2017·International Journal of Molecular Medicine·Sandra SchrenkRosa Di Liddo
Apr 24, 1996·American Journal of Medical Genetics·Anne De PaepeR E Pyeritz
Oct 28, 1998·Medicine and Science in Sports and Exercise·A C Braverman
Oct 6, 1999·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·E Gilbert-Barness, L A Barness
Sep 8, 2017·Clinical Case Reports·Abhishek SinhaOmar Kujan
Nov 4, 2004·American Journal of Medical Genetics. Part a·Peter De CosterAnne De Paepe

Related Concepts

Chromosomes, Human, Pair 15
DNA Mutational Analysis
Ectopia Lentis
Genetic Conditions, Dominant
Marfan Syndrome
Microfilament Proteins

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