Briggs M D, Hoffman S M, King L M, Olsen A S, Mohrenweiser H, Leroy J G, Mortier G R, Rimoin D L, Lachman R S, Gaines E S
Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Cedars-Sinai Research Institute, Los Angeles, California 90048, USA.
Nat Genet. 1995 Jul;10(3):330-6. doi: 10.1038/ng0795-330.
Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are dominantly inherited chondrodysplasias characterized by short stature and early-onset osteoarthrosis. The disease genes in families with PSACH and MED have been localized to an 800 kilobase interval on the short arm of chromosome 19. Recently the gene for cartilage oligomeric matrix protein (COMP) was localized to chromosome 19p13.1. In three patients with these diseases, we identified COMP mutations in a region of the gene that encodes a Ca++ binding motif. Our data demonstrate that PSACH and some forms of MED are allelic and suggest an essential role for Ca++ binding in COMP structure and function.
假性软骨发育不全（PSACH）和多发性骨骺发育不良（MED）是显性遗传的软骨发育异常，其特征为身材矮小和早发性骨关节炎。患有PSACH和MED的家族中的致病基因已被定位到19号染色体短臂上一个800千碱基的区间。最近，软骨寡聚基质蛋白（COMP）基因被定位到19p13.1染色体。在三名患有这些疾病的患者中，我们在该基因编码Ca++结合基序的区域鉴定出COMP突变。我们的数据表明，PSACH和某些形式的MED是等位基因，并提示Ca++结合在COMP结构和功能中起重要作用。
