cothec / brat4ref

Kniest dysplasia: Dr. W. Kniest, his patient, the molecular defect.
Kniest dysplasia is a severe chondrodysplasia caused by the defective formation of type II collagen . We report about Dr . Kniest , who first described the condition in 1952 , and his patient , who , at the age of 50 years is severely handicapped with short stature , restricted joint mobility , and blindness but is mentally alert and leads an active life . Molecular analysis of the patients DNA showed a single base ( G ) deletion involving the GT dinucleotide at the start of intron 18 destroying a splice site of the COL2A1 gene . This is in accordance with molecular findings in other patients with Kniest dysplasia and confirms , in the original patient , that the disorder is caused by small inframe deletions often due to exon skipping as a result of COL2A1 splice site mutations . .