title: Kniest dysplasia: Dr. W. Kniest, his patient, the molecular defect.
abstract: 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 patient's 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.
authors.affiliation: Children's Hospital, University of Mainz, Germany.
authors.forename: J
authors.initials: J
authors.lastname: Spranger
authors.forename: A
authors.initials: A
authors.lastname: Winterpacht
authors.forename: B
authors.initials: B
authors.lastname: Zabel
mesh_terms: D001842:Bone and Bones / Q000000981:diagnostic imaging; D003094:Collagen / Q000235:genetics*; D005260:Female; D006801:Humans; D008875:Middle Aged; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography
chemical_list: D003094:Collagen