Phenotypic expressions of a Gly154Arg mutation in type II collagen in two unrelated patients with spondyloepimetaphyseal dysplasia (SEMD)

✍ Scribed by Kaitila, I.; Körkkö, J.; Marttinen, E.; Ala-Kokko, L.

• Publisher: John Wiley and Sons
• Year: 1996
• Tongue: English
• Weight: 76 KB
• Volume: 63
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19960503)63:1<111::aid-ajmg21>3.0.co;2-q

✦ Synopsis

Q p e I1 collagenopathies consist of chondrodysplasias ranging from lethal to mild in severity. A large number of mutations has been found in the COL2A1 gene. Glycine substitutions have been the most common types of mutation. Genotype-phenotype cor- relations in type I1 collagenopathies have not been established, partly because of insufficient clinical and radiographic description of the patients.

We found a glycine-to-arginine substitution at position 154 in type I1 collagen in two unrelated isolated propositi with spondyloepimetaphyseal dysplasia and provide a comparative clinical and radiographic analysis from birth to young adulthood for this condition. The clinical phenotype was disproportionate short stature with varuslvalgus deformities of the lower limbs requiring cor- rective osteotomies, and lumbar lordosis. The skeletal radiographs showed an evolution from short tubular bones, delayed epiphyseal development, and mild vertebral involvement to severe metaphyseal dysplasia with dappling irregularities, and hip "dysplasia." The metaphyseal abnormalities disappeared by adulthood.