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

Jackson, Gail C., Mittaz-Crettol, Laureane, Taylor, Jacqueline A., Mortier, Geert R., Spranger, Juergen, Zabel, Bernhard, Le Merrer, Martine, Cormier-Daire, Valerie, Hall, Christine M., Offiah, Amaka, Wright, Michael J., Savarirayan, Ravi, Nishimura, Gen, Ramsden, Simon C., Elles, Rob, Bonafe, Luisa, Superti-Furga, Andrea, Unger, Sheila, Zankl, Andreas and Briggs, Michael D. (2012) 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. Human Mutation, 33 1: 144-157. doi:10.1002/humu.21611


Author Jackson, Gail C.
Mittaz-Crettol, Laureane
Taylor, Jacqueline A.
Mortier, Geert R.
Spranger, Juergen
Zabel, Bernhard
Le Merrer, Martine
Cormier-Daire, Valerie
Hall, Christine M.
Offiah, Amaka
Wright, Michael J.
Savarirayan, Ravi
Nishimura, Gen
Ramsden, Simon C.
Elles, Rob
Bonafe, Luisa
Superti-Furga, Andrea
Unger, Sheila
Zankl, Andreas
Briggs, Michael D.
Title 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
Journal name Human Mutation   Check publisher's open access policy
ISSN 1059-7794
Publication date 2012-01
Year available 2011
Sub-type Article (original research)
DOI 10.1002/humu.21611
Volume 33
Issue 1
Start page 144
End page 157
Total pages 14
Place of publication Hoboken, NJ, U.S.A.
Publisher John Wiley & Sons, Inc.
Collection year 2012
Language eng
Formatted 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.
Keyword Pseudoachondroplasia
Multiple epiphyseal dysplasia
COMP
SLC26A2
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ
Additional Notes Article first published online: 31 OCT 2011

Document type: Journal Article
Sub-type: Article (original research)
Collections: UQ Centre for Clinical Research Publications
Official 2012 Collection
School of Medicine Publications
 
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Created: Wed, 14 Dec 2011, 12:45:05 EST by Matthew Lamb on behalf of School of Medicine