[软骨寡聚基质蛋白基因的一种新突变是多发性骨骺发育不良的基础]
[A novel mutation of cartilage oligomeric matrix protein gene underlies multiple epiphyseal dysplasia].
作者信息
Wang Hui, Xie Jiansheng, Wu Weiqing, Xu Zhiyong, Luo Fuwei, Geng Qian
机构信息
Center for Prenatal Diagnosis, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, Guangdong 518048, P.R. China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Jun;30(3):322-5. doi: 10.3760/cma.j.issn.1003-9406.2013.03.016.
OBJECTIVE
To perform mutation analysis for a female with multiple epiphyseal dysplasia (MED) and provide pre-symptomatic and prenatal diagnosis.
METHODS
Mutation screening of cartilage oligomeric matrix protein (COMP) gene was carried out through targeted next-generation DNA sequencing and Sanger sequencing.
RESULTS
A novel c.956 A>T resulting in substitution of Aspartic acid 319 for Valine (p.Asp319Val) has been identified in exon 9 of the COMP gene in the patient. As predicted by a SIFT software, above mutation can cause damage to the structure of COMP protein.
CONCLUSION
A novel c.956 A>T substitution mutation has been identified in a patient featuring MED.
目的
对一名患有多发性骨骺发育不良（MED）的女性进行突变分析，并提供症状前诊断和产前诊断。
方法
通过靶向二代DNA测序和桑格测序对软骨寡聚基质蛋白（COMP）基因进行突变筛查。
结果
在该患者COMP基因的第9外显子中鉴定出一个新的c.956 A>T突变，该突变导致天冬氨酸319被缬氨酸替代（p.Asp319Val）。如SIFT软件预测的那样，上述突变可导致COMP蛋白结构受损。
结论
在一名患有MED的患者中鉴定出一个新的c.956 A>T替代突变。
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