Туре 1 Stickler syndrome in children
The authors present the data available in the literature and their clinical observation of two sibs with type 1 Stickler syndrome. Particular attention is given to its clinical manifestations and molecular diagnosis. The developed procedure for analyzing DNA from patients with this pathology has permitted identification of earher non-described mutation at the site C.1069-1G>C of the intron-exon junction of the COL2A1 gene. The clinical picture of the disease has been found to be caused by the discovered mutation leading to the shortening of the polypeptide chain, the impaired assembly of protein and its function loss. It is shown how difficult to make differential diagnosis of type 1 Stickler syndrome with other phenotypicalry abnormalities.