SCIENTIFIC BACKGROUND

COL2A1

Kniest syndrome is a rare, genetic spondylometaepiphyseal dysplasia. There are currently around 200 known cases worldwide. It is a disease with autosomal dominant inheritance.

 

It is characterized by disproportionate short stature, progressive dysplasia of the axial skeleton and limbs, a flat facial contour, and the inability to form a closed fist. Thickening and restricted movement of the joints can lead to an inability to walk. Histologically, the articular cartilage looks like Swiss cheese with holes. In addition, myopia, blindness due to retinal detachment, hearing loss, osteoporosis, and cleft palate often occur.

 

Together with achondrogenesis, hypochondrogenesis, spondyloepiphyseal dysplasia and Stickler syndrome, these connective tissue diseases are also summarized under the term collagen type II diseases. In Kniest syndrome, deletions or splice variants are frequently found that lead to the functional loss of an allele.

 

Secretion defects of type II collagen have been identified as the cause, which in turn are associated with variants in the COL2A1 gene. Most of the structural defects described are in-frame variants caused by small deletions or splice variants.

GENES

COL2A1
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