COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.
COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.
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DOI：
10.1038/sj.ejhg.5201374
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发表时间：
2005-05
影响因子：
5.2
通讯作者：
Briggs, MD
中科院分区：
文献类型：
--
作者：
Kennedy, J;Jackson, G;Ramsden, S;Taylor, J;Newman, W;Wright, MJ;Donnai, D;Elles, R;Briggs, MD
骨骼发育不良是一组影响骨骼发育的临床和遗传异质性疾病，属于罕见遗传疾病的范畴，非专家很难诊断。两种这样的疾病是假性软骨发育不全（PRACH）和多发性骨骺发育不良（MED），其导致不同程度的身材矮小、关节疼痛和僵硬，并且通常导致早发性骨关节炎。PSACH和某些形式的MED是由软骨寡聚基质蛋白（COMP）基因突变引起的，为了帮助临床诊断和咨询疑似诊断为PSACH或MED的患者，我们开发了一种针对COMP基因的高效准确的分子诊断服务。在36个月的时间里，我们对100个家庭进行了COMP突变的筛查，并在78%的PRACH家庭和36%的MED家庭中发现了致病突变。此外，在其中几个家庭中，确定致病突变提供了立即用于指导生殖决策的信息。
The skeletal dysplasias are a clinically and genetically heterogeneous group of conditions affecting the development of the osseous skeleton and fall into the category of rare genetic diseases in which the diagnosis can be difficult for the nonexpert. Two such diseases are pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED), which result in varying degrees of short stature, joint pain and stiffness and often resulting in early onset osteoarthritis. PSACH and some forms of MED result from mutations in the cartilage oligomeric matrix protein (COMP) gene and to aid the clinical diagnosis and counselling of patients with a suspected diagnosis of PSACH or MED, we developed an efficient and accurate molecular diagnostic service for the COMP gene. In a 36-month period, 100 families were screened for a mutation in COMP and we identified disease-causing mutations in 78% of PSACH families and 36% of MED families. Furthermore, in several of these families, the identification of a disease-causing mutation provided information that was immediately used to direct reproductive decision-making.
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