Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large Stickler syndrome family
Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large Stickler syndrome family
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DOI：
10.1016/s0002-9394(02)01638-0
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发表时间：
2002-11-01
影响因子：
4.2
通讯作者：
Meyer, D
中科院分区：
文献类型：
--
作者：
Donoso, LA;Edwards, AO;Meyer, D
.目得：描述一个未报道的常染色体显性遗传性玻璃体视网膜变性大家族的临床特征，并鉴定其突变。设计：队列研究。方法：家庭成员进行了临床评估超过30年的时间。进行家系调查、与已知玻璃体视网膜变性的遗传连锁以及COL2A1基因的突变筛查。结果：我们确定了一个跨越12代的玻璃体视网膜变性大家族（共2，384名家庭成员）。我们回顾了165个家族成员的临床记录（95个受影响，70个在外显子2内鉴定，导致在位置86处产生终止密码子（Cys86Stop））。结论：在这个家庭中的突变的鉴定，使诊断的个人在这种情况下，在早期的潜在致盲并发症的风险。鉴于Stickler表型的变异性，突变检测可以进行更全面的遗传咨询，并指导对遗传疾病基因的家庭成员进行临床监测。(C)2002年，Elsevier Science Inc. All rights reserved.
. PURPOSE: To describe the clinical features and identify the mutation responsible for an autosomal dominant vitreoretinal degeneration occurring in a previously unreported large family.. DESIGN: Cohort study.. METHODS: Family members were evaluated clinically over a 30 year period. Genealogical investigation, genetic linkage to known vitreoretinal degenerations, and mutation screening of the COL2A1 gene were performed..RESULTS: We identified a single large family (2,384 total family members) with vitreoretinal degeneration spanning 12 generations. We reviewed the clinical records of 165 family members (95 affected and 70 identified within exon 2, leading to the creation of a stop codon at position 86 (Cys86Stop).. CONCLUSIONS: Identification of the mutation in this family enables diagnosis of individuals at risk for potentially blinding complications in this condition at an early age. Given the variability of the Stickler phenotype, mutation detection allows for more comprehensive genetic counseling and directs clinical monitoring to family members inheriting the disease gene. (C) 2002 by Elsevier Science Inc. All rights reserved.