Kniest dysplasia: Dr. W. Kniest, his patient, the molecular defect.
Kniest dysplasia: Dr. W. Kniest, his patient, the molecular defect.
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DOI：
10.1002/(sici)1096-8628(19970303)69:1
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发表时间：
1997-03
期刊：
影响因子：
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通讯作者：
J. Spranger;A. Winterpacht;Bernhard Zabel
中科院分区：
文献类型：
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作者：
J. Spranger;A. Winterpacht;Bernhard Zabel
Kniest 发育不良是一种由 II 型胶原蛋白形成缺陷引起的严重软骨发育不良。我们报道了 Kniest 医生，他于 1952 年首次描述了这种情况，他的病人 50 岁，患有严重残疾，身材矮小，关节活动受限，并且失明，但精神清醒，生活积极。对患者 DNA 的分子分析显示，内含子 18 起始处的 GT 二核苷酸存在单碱基 (G) 缺失，破坏了 COL2A1 基因的剪接位点。这与其他 Kniest 发育不良患者的分子发现一致，并证实在原始患者中，该疾病是由小内框缺失引起的，通常是由于 COL2A1 剪接位点突变导致的外显子跳跃所致。
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.