COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia
| Autor: | Michael Wright, Dian Donnai, Gail C. Jackson, Simon C Ramsden, Rob Elles, William G. Newman, Jacky Taylor, Michael D. Briggs, Jason Kennedy |
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| Rok vydání: | 2005 |
| Předmět: |
Male
musculoskeletal diseases Pediatrics medicine.medical_specialty Adolescent DNA Mutational Analysis Genetic Counseling Cartilage Oligomeric Matrix Protein Gene mutation Osteochondrodysplasias medicine.disease_cause Polymorphism Single Nucleotide Short stature Article Multiple epiphyseal dysplasia Pseudoachondroplasia Genetics medicine Humans Matrilin Proteins Point Mutation Genetic Testing Genetics (clinical) Glycoproteins Cartilage oligomeric matrix protein Extracellular Matrix Proteins Mutation biology Genetic heterogeneity business.industry Infant medicine.disease Joint pain biology.protein Female medicine.symptom business |
| Zdroj: | European Journal of Human Genetics. 13:547-555 |
| ISSN: | 1476-5438 1018-4813 |
| DOI: | 10.1038/sj.ejhg.5201374 |
| Popis: | The skeletal dysplasias are a clinically and genetically heterogeneous group of conditions affecting the development of the osseous skeleton and fall into the category of rare genetic diseases in which the diagnosis can be difficult for the nonexpert. Two such diseases are pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED), which result in varying degrees of short stature, joint pain and stiffness and often resulting in early onset osteoarthritis. PSACH and some forms of MED result from mutations in the cartilage oligomeric matrix protein (COMP) gene and to aid the clinical diagnosis and counselling of patients with a suspected diagnosis of PSACH or MED, we developed an efficient and accurate molecular diagnostic service for the COMP gene. In a 36-month period, 100 families were screened for a mutation in COMP and we identified disease-causing mutations in 78% of PSACH families and 36% of MED families. Furthermore, in several of these families, the identification of a disease-causing mutation provided information that was immediately used to direct reproductive decision-making. |
| Databáze: | OpenAIRE |
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