ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome

American Journal of Human Genetics
Nathalie DagoneauValérie Cormier-Daire

Abstract

Weill-Marchesani syndrome (WMS) is characterized by the association of short stature; brachydactyly; joint stiffness; eye anomalies, including microspherophakia and ectopia of the lenses; and, occasionally, heart defects. We have recently mapped a gene for the autosomal recessive form of WMS to chromosome 19p13.3-p13.2, in a 12.4-cM interval. Here, we report null mutations in a member of the extracellular matrix protease family, the gene encoding ADAMTS10, a disintegrin and metalloprotease with thrombospondin motifs. A total of three distinct mutations were identified in two consanguineous families and in one sporadic WMS case, including one nonsense mutation (R237X) and two splice mutations (1190+1G-->A and 810+1G-->A). ADAMTS10 expression studies using reverse-transcriptase polymerase chain reaction, northern blot, and dot-blot analyses showed that ADAMTS10 is expressed in skin, fetal chondrocytes, and fetal and adult heart. Moreover, electron microscopy and immunological studies of the skin fibroblasts from the patients confirmed impairment of the extracellular matrix. We conclude, therefore, that ADAMTS10 plays a major role in growth and in skin, lens, and heart development in humans.

References

Aug 30, 2000·Matrix Biology : Journal of the International Society for Matrix Biology·B CatersonC B Little
Feb 13, 2001·The International Journal of Biochemistry & Cell Biology·B L Tang
Apr 10, 2002·Human Genetics·Laurence FaivreValérie Cormier-Daire
Jan 15, 2003·Journal of Medical Genetics·L FaivreV Cormier-Daire
Nov 5, 2003·American Journal of Medical Genetics. Part a·Laurence FaivreValérie Cormier-Daire
Apr 20, 2004·The International Journal of Biochemistry & Cell Biology·Suneel S Apte

❮ Previous
Next ❯

Citations

Jul 10, 2010·Human Genetics·Arun KumarSusan H Blanton
Jun 11, 2009·Cell and Tissue Research·Francesco Ramirez, Lynn Y Sakai
May 19, 2005·The International Journal of Biochemistry & Cell Biology·Julie Huxley-JonesRaymond P Boot-Handford
Aug 22, 2013·Expert Reviews in Molecular Medicine·Andrew K BaldwinCay M Kielty
Feb 25, 2010·European Journal of Human Genetics : EJHG·Julie DésirMarc Abramowicz
Aug 22, 2009·Journal of Human Genetics·Salim Ben YahiaMoncef Khairallah
Dec 14, 2011·Nature Genetics·Carine Le GoffValérie Cormier-Daire
Sep 2, 2011·Human Molecular Genetics·Carine Le Goff, Valérie Cormier-Daire
May 15, 2010·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Maureen Murphy-RyanNoralane M Lindor
Mar 31, 2006·Journal of Medical Genetics·P N RobinsonM Godfrey
Feb 8, 2005·BMC Evolutionary Biology·Ainsley C NicholsonErwin G Van Meir
May 6, 2008·PLoS Genetics·Debra L SilverWilliam J Pavan
Jan 14, 2012·PLoS Genetics·Gerhard SengleLynn Y Sakai
Mar 1, 2010·Indian Journal of Medical Sciences·Sanjay K MandalApurba B Pramanik
Feb 14, 2014·Journal of Ocular Pharmacology and Therapeutics : the Official Journal of the Association for Ocular Pharmacology and Therapeutics·John Kuchtey, Rachel W Kuchtey
Aug 10, 2010·Annual Review of Genomics and Human Genetics·Dustin BaldridgeBrendan Lee
Nov 21, 2013·Human Genetics·Fan LiuManfred Kayser
Jan 1, 2011·Case Reports in Ophthalmological Medicine·Kevin GallagherHadi Zambarakji
May 30, 2012·FEBS Letters·Jefferson J DoyleHarry C Dietz
Mar 11, 2008·Best Practice & Research. Clinical Rheumatology·Bert CallewaertAnne De Paepe
Nov 11, 2008·The International Journal of Biochemistry & Cell Biology·Jean-Michel LongpréRichard Leduc
Aug 19, 2015·The Veterinary Clinics of North America. Small Animal Practice·András M Komáromy, Simon M Petersen-Jones
Feb 24, 2006·Clinical & Experimental Optometry : Journal of the Australian Optometrical Association·Byoung Sun Chu
Jul 30, 2011·The Journal of Small Animal Practice·G PayenS Chahory
Jul 2, 2011·Congenital Heart Disease·Henrik JensenVibeke E Hjortdal
May 14, 2011·Clinical Genetics·L FaivreG Jondeau
Dec 6, 2011·American Journal of Medical Genetics. Part a·Reed E Pyeritz, Bart Loeys
Jul 31, 2013·American Journal of Medical Genetics. Part a·Alana CecchiDianna M Milewicz
Sep 17, 2013·American Journal of Medical Genetics. Part a·Allen L PimientaEyal Reinstein
Nov 12, 2013·American Journal of Medical Genetics. Part a·Aaina KochharVirginia Michels
Mar 4, 2014·Clinical Genetics·C Le GoffV Cormier-Daire
Aug 27, 2014·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Tadayoshi HayataMasaki Noda
Dec 18, 2013·American Journal of Medical Genetics. Part a·Céline KleinValérie Cormier-Daire

❮ Previous
Next ❯

Related Concepts

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

Cell Migration

Cell migration is involved in a variety of physiological and pathological processes such as embryonic development, cancer metastasis, blood vessel formation and remoulding, tissue regeneration, immune surveillance and inflammation. Here is the latest research.