Familial multiple epiphyseal dysplasia due to a matrilin-3 mutation
| Autor: | B.R.H. Jansen, B. de Graaf, J.R. van Horn, Dick Lindhout, A. Mostert, Peter Heutink, Piet Dijkstra |
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| Přispěvatelé: | Clinical Genetics |
| Jazyk: | angličtina |
| Rok vydání: | 2003 |
| Předmět: |
Adult
Male Candidate gene Pathology medicine.medical_specialty EDM5 Adolescent DNA Mutational Analysis skeletal dysplasia Osteochondrodysplasias Genetic determinism Multiple epiphyseal dysplasia REGION Pseudoachondroplasia Genetic linkage medicine LOCUS Humans Matrilin Proteins HETEROGENEITY Amino Acid Sequence Child Genetics (clinical) Genetics Extracellular Matrix Proteins PSEUDOACHONDROPLASIA business.industry COMP Middle Aged medicine.disease Phenotype Pedigree Radiography Dysplasia Case-Control Studies Child Preschool Mutation Mutation testing Female business Sequence Alignment Follow-Up Studies |
| Zdroj: | Scopus-Elsevier American Journal of Medical Genetics, 120, 490-497. Wiley-Liss Inc. American Journal of Medical Genetics. Part A, 120A(4), 490-497. Wiley |
| ISSN: | 1552-4825 0148-7299 |
| DOI: | 10.1002/ajmg.a.20034 |
| Popis: | In this study, we followed-up the family with bilateral hereditary micro-epiphyseal dysplasia (BHMED) originally described by Elsbach [1959: J Bone Joint Surg [Br] 41B:514-523]. Clinical re-examination of all available family members resulted in further delineation of the clinical and radiological phenotype, which is distinct from common multiple epiphyseal dysplasia (MED). Linkage analysis excluded EDM1, EDM2, and EDM3 as candidate genes. Linkage and mutation analysis of matrilin-3 (MATN-3) revealed a new pathogenic mutation confirming that BHMED is indeed a distinct disease entity among MED and MED-like disorders. (C) 2003 Wiley-Liss, Inc. |
| Databáze: | OpenAIRE |
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