ORPHA: 166002; DO: 0070301;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 6q13 | ?Epiphyseal dysplasia, multiple, 6 | 614135 | Autosomal dominant | 3 | COL9A1 | 120210 |
A number sign (#) is used with this entry because of evidence that multiple epiphyseal dysplasia-6 (EDM6) is caused by heterozygous mutation in the COL9A1 gene (120210) on chromosome 6p13. One such family has been reported.
For a general phenotypic description and a discussion of genetic heterogeneity of multiple epiphyseal dysplasia, see 132400.
Czarny-Ratajczak et al. (2001) reported a family with multiple epiphyseal dysplasia. The 30-year-old proband had knee pains and difficulty walking since 10 years of age. Radiographs showed early osteoarthritis of one knee, Schmorl nodes, endplate irregularities, anterior osteophytes in the thoracolumbar vertebrae, and normal hips. Radiographs of the proband's affected mother, whose symptoms did not begin until age 45 years, showed widespread and severe osteoarthritis in all joints.
In a proband with multiple epiphyseal dysplasia, Czarny-Ratajczak et al. (2001) identified a heterozygous mutation in the COL9A1 gene (120210.0001). His affected mother had the same mutation, which was not found in his unaffected sister or in 600 control chromosomes.
Czarny-Ratajczak, M., Lohiniva, J., Rogala, P., Kozlowski, K., Perala, M., Carter, L., Spector, T. D., Kolodziej, L., Seppanen, U., Glazar, R., Krolewski, J., Latos-Bielenska, A., Ala-Kokko, L. A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity. Am. J. Hum. Genet. 69: 969-980, 2001. [PubMed: 11565064] [Full Text: https://doi.org/10.1086/324023]