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Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.

Abstract
Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are relatively common skeletal dysplasias resulting in short-limbed dwarfism, joint pain, and stiffness. PSACH and the largest proportion of autosomal dominant MED (AD-MED) results from mutations in cartilage oligomeric matrix protein (COMP); however, AD-MED is genetically heterogenous and can also result from mutations in matrilin-3 (MATN3) and type IX collagen (COL9A1, COL9A2, and COL9A3). In contrast, autosomal recessive MED (rMED) appears to result exclusively from mutations in sulphate transporter solute carrier family 26 (SLC26A2). The diagnosis of PSACH and MED can be difficult for the nonexpert due to various complications and similarities with other related diseases and often mutation analysis is requested to either confirm or exclude the diagnosis. Since 2003, the European Skeletal Dysplasia Network (ESDN) has used an on-line review system to efficiently diagnose cases referred to the network prior to mutation analysis. In this study, we present the molecular findings in 130 patients referred to ESDN, which includes the identification of novel and recurrent mutations in over 100 patients. Furthermore, this study provides the first indication of the relative contribution of each gene and confirms that they account for the majority of PSACH and MED.
AuthorsGail C Jackson, Laureane Mittaz-Crettol, Jacqueline A Taylor, Geert R Mortier, Juergen Spranger, Bernhard Zabel, Martine Le Merrer, Valerie Cormier-Daire, Christine M Hall, Amaka Offiah, Michael J Wright, Ravi Savarirayan, Gen Nishimura, Simon C Ramsden, Rob Elles, Luisa Bonafe, Andrea Superti-Furga, Sheila Unger, Andreas Zankl, Michael D Briggs
JournalHuman mutation (Hum Mutat) Vol. 33 Issue 1 Pg. 144-57 (Jan 2012) ISSN: 1098-1004 [Electronic] United States
PMID21922596 (Publication Type: Journal Article, Multicenter Study, Research Support, Non-U.S. Gov't)
Copyright© 2011 Wiley Periodicals, Inc.
Chemical References
  • Anion Transport Proteins
  • Cartilage Oligomeric Matrix Protein
  • Collagen Type IX
  • Extracellular Matrix Proteins
  • Glycoproteins
  • Matrilin Proteins
  • SLC26A2 protein, human
  • Sulfate Transporters
  • TSP5 protein, human
Topics
  • Achondroplasia (genetics)
  • Amino Acid Sequence
  • Anion Transport Proteins (genetics)
  • Cartilage Oligomeric Matrix Protein
  • Child
  • Child, Preschool
  • Collagen Type IX (genetics)
  • DNA Mutational Analysis
  • Exons
  • Extracellular Matrix Proteins (genetics)
  • Female
  • Genetic Heterogeneity
  • Glycoproteins (genetics)
  • Humans
  • Longitudinal Studies
  • Male
  • Matrilin Proteins
  • Molecular Sequence Data
  • Mutation
  • Osteochondrodysplasias (genetics)
  • Pedigree
  • Phenotype
  • Practice Guidelines as Topic
  • Sulfate Transporters

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