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Kniest dysplasia: Clinical, pathologic, and molecular findings in a severely affected patient - And review of the literature
Pediatric Pathology & Molecular Medicine
Kniest dysplasia is a chondrodysplasia characterized bydisproportionate dwarfism and facial dysmorphic features. Enchondralossification of hyaline cartilage is impaired, and histologicexamination of cartilage cartilage shows an abnormal structure(''Swiss cheese'' pattern). Dominant mutations within the geneencoding for collagen II (COL2A1), the major cartilage matrix protein,have been identified as the unifying genetic defect. Our paperdescribes the clinical, radiologic, pathologic, and molecular featuresof a patient with severe Kniest dysplasia carrying a novel splice sitemutation at position + 1 of intron 22 of the COL2A1 gene with presumedskipping of exon 22. We compare our findings with all published Kniestpatients with identified COL2A1 gene mutations. There is a strongassociation between collagen II chain length variation and Kniestdysplasia (as opposed to amino acid substitutions), suggesting adistinct pathophysiologic mechanism leading to the characteristic``hypertrophy'' of cartilage; the nature of this mechanism isdiscussed.
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