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Autosomal dominant spondylarthropathy due to a type II procollagen gene(COL2A1) point mutation

✍ Scribed by Andreas Winterpacht; Matthias Hilbert; Ulrike Schwarze; Stefan Mundlos; Jürgen Spranger; Bernhard Zabel

Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
523 KB
Volume
4
Category
Article
ISSN
1059-7794

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✦ Synopsis

Osteoarthrosis represents a very common disease with heterogeneous etiology. In some pedigrees linkage of the condition with the type I1 collagen gene (COUAI) 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 COLZAl 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 5 4 exons, screening of the PCR products by SSCP-analysis, and subsequent sequencing. In mother and daughter a G to A transition at the 5'9nd 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 11 collagenopathies.

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