AUTOSOMAL-DOMINANT SPONDYLARTHROPATHY DUE TO A TYPE-II PROCOLLAGEN GENE (COL2A1) POINT MUTATION

作者：WINTERPACHT A^*; HILBERT M; SCHWARZE U; MUNDLOS S; SPRANGER J; ZABEL B

来源：Human Mutation, 1994, 4(4): 257-262.

DOI：10.1002/humu.1380040405

• OSTEOARTHROSIS
• CHONDRODYSPLASIA
• TYPE II COLLAGEN
• MUTATION

Osteoarthrosis represents a very common disease with heterogeneous etiology. In some pedigrees linkage of the condition with the type II collagen gene (COL2A1) has been established, but information on the underlying gene defect is still incomplete as only one mutation causing this phenotype has been identified. We analyzed the COL2A1 gene in a 27-year-old woman and her 47-year-old mother presenting with severe premature osteoarthrosis and X-ray signs compatible with mild spondyloepiphyseal dysplasia. Examination of the complete gene in both patients was done by amplification of all 54 exons, screening of the PCR products by SSCP-analysis, and subsequent sequencing. In mother and daughter a G to A transition at the 5'-end of exon 21 was detected, leading to a substitution of serine for glycine at position 274 of the triple helical domain. The mutation was not present in unaffected family members or in healthy control individuals. The autosomal dominant spondylarthropathies may represent the less severe entities of the clinical spectrum of type II collagenopathies.

• 出版日期1994