机构：[1]Sichuan Provincial Key Laboratory for Human Disease Gene Study, The Institute of Laboratory Medicine, Hospital of University of Electronic Science and Technology of China andSichuan Provincial People’s Hospital, Sichuan, China四川省人民医院[2]Clinical Laboratory Department, Sichuan Cancer Hospital and Institute, Sichuan, China四川省肿瘤医院[3]Department of Medical Oncology,Sichuan Cancer Hospital and institute, Sichuan, China四川省肿瘤医院[4]Clinical Laboratory Department, Chengdu Women’s and Children’s Central Hospital, Chengdu, China[5]The Ultrasound Department, Chengdu Women’s and Children’s Hospital, Sichuan, China[6]Clinical Medicine College, Sichuan Medical University, Sichuan, China.
Pseudoachondroplasia (PSACH) is a rare and severe genetic disease; therefore, an accurate molecular diagnosis is essential for appropriate disease treatment and family planning. Currently, the diagnosis of PSACH is based mainly on family history, physical examination and radiographic evaluation. Genetic studies of patients with PSACH in Chinese populations have been very limited. With the application of next-generation sequencing (NGS), a comprehensive molecular diagnosis of PSACH is now possible. The purpose of this study was to perform comprehensive NGS-based molecular diagnoses for patients with PSACH in China. We investigated the molecular genetics of one suspected PSACH family in this study. The DNA sample from the proband was sequenced using a custom capture panel that included 249 bone disease genes. Variant calls were filtered and annotated using an in-house automated pipeline. Then, we confirmed the variants by Sanger sequencing in three family members. After co-segregation analysis, the variant, c.1160-1162del of the COMP gene, was identified as a novel mutation responsible for this spontaneous form of PSACH.
语种：
外文
PubmedID：
第一作者：
第一作者机构：[1]Sichuan Provincial Key Laboratory for Human Disease Gene Study, The Institute of Laboratory Medicine, Hospital of University of Electronic Science and Technology of China andSichuan Provincial People’s Hospital, Sichuan, China[2]Clinical Laboratory Department, Sichuan Cancer Hospital and Institute, Sichuan, China
共同第一作者：
通讯作者：
通讯机构：[1]Sichuan Provincial Key Laboratory for Human Disease Gene Study, The Institute of Laboratory Medicine, Hospital of University of Electronic Science and Technology of China andSichuan Provincial People’s Hospital, Sichuan, China[6]Clinical Medicine College, Sichuan Medical University, Sichuan, China.
推荐引用方式(GB/T 7714)：
Huaichao Luo,Sisi Yu,Ying Lin,et al.A novel deleterious mutation in the COMP gene that causes pseudoachondroplasia(Open Access)[J].Human genome variation.2016,3:16009.doi:10.1038/hgv.2016.9.
APA：
Huaichao Luo,Sisi Yu,Ying Lin,Qi Guo,Rongchuan Ma...&Zhenglin Yang.(2016).A novel deleterious mutation in the COMP gene that causes pseudoachondroplasia(Open Access).Human genome variation,3,
MLA：
Huaichao Luo,et al."A novel deleterious mutation in the COMP gene that causes pseudoachondroplasia(Open Access)".Human genome variation 3.(2016):16009
