Reginato A J, Passano G M, Neumann G, Falasca G F, Diaz-Valdez M, Jimenez S A, Williams C J
Rheumatology Section, Cooper Hospital University Medical Center, Camden, NJ 08103.
Arthritis Rheum. 1994 Jul;37(7):1078-86. doi: 10.1002/art.1780370714.
To characterize a kindred of Chiloe Islanders with spondyloepiphyseal dysplasia tarda (SEDT), brachydactyly, precocious osteoarthritis (OA), and intraarticular calcification.
Sixteen family members underwent a complete physical examination, anthropometric measurements, radiographic studies of the spine and peripheral joints, and analysis of the type II procollagen gene (COL2A1).
Seven family members presented with SEDT, brachydactyly, precocious OA, and periarticular calcification while 2 others had the same syndrome but without brachydactyly. The inheritance was autosomal dominant, and the disease cosegregated with a base substitution in the COL2A1 gene.
The syndrome o SEDT, precocious OA, and brachydactyly in a kindred of Chiloe Islanders is associated with a point mutation in 1 allele of the COL2A1 gene. The relationship of this type of SEDT to familial calcium pyrophosphate dihydrate deposition disease and idiopathic hip dysplasia, both endemic in Chiloe Islanders, needs to be further investigated.
对奇洛埃岛居民中一个患有迟发性脊椎骨骺发育不良（SEDT）、短指畸形、早发性骨关节炎（OA）和关节内钙化的家族进行特征描述。
16名家族成员接受了全面的体格检查、人体测量、脊柱和外周关节的影像学研究以及II型前胶原基因（COL2A1）分析。
7名家族成员表现出SEDT、短指畸形、早发性OA和关节周围钙化，另外2名有相同综合征但无短指畸形。遗传方式为常染色体显性遗传，且该疾病与COL2A1基因中的一个碱基替换共分离。
奇洛埃岛居民家族中SEDT、早发性OA和短指畸形综合征与COL2A1基因的一个等位基因中的点突变相关。这种类型的SEDT与家族性焦磷酸钙二水合物沉积病和特发性髋关节发育不良（在奇洛埃岛居民中均为地方病）之间的关系有待进一步研究。
