title: A novel deleterious mutation in the COMP gene that causes pseudoachondroplasia.
abstract: 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.
authors.affiliation: Sichuan Provincial Key Laboratory for Human Disease Gene Study, The Institute of Laboratory Medicine, Hospital of University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Sichuan, China; Clinical Laboratory Department, Sichuan Cancer Hospital and Institute, Sichuan, China.
authors.forename: Huaichao
authors.initials: H
authors.lastname: Luo
authors.affiliation: Department of Medical Oncology, Sichuan Cancer Hospital and institute , Sichuan, China.
authors.forename: Sisi
authors.initials: S
authors.lastname: Yu
authors.affiliation: Sichuan Provincial Key Laboratory for Human Disease Gene Study, The Institute of Laboratory Medicine, Hospital of University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital , Sichuan, China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Lin
authors.affiliation: Clinical Laboratory Department, Chengdu Women's and Children's Central Hospital , Chengdu, China.
authors.forename: Qi
authors.initials: Q
authors.lastname: Guo
authors.affiliation: The Ultrasound Department, Chengdu Women's and Children's Hospital , Sichuan, China.
authors.forename: Rongchuan
authors.initials: R
authors.lastname: Ma
authors.affiliation: Sichuan Provincial Key Laboratory for Human Disease Gene Study, The Institute of Laboratory Medicine, Hospital of University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital , Sichuan, China.
authors.forename: Zimeng
authors.initials: Z
authors.lastname: Ye
authors.affiliation: Sichuan Provincial Key Laboratory for Human Disease Gene Study, The Institute of Laboratory Medicine, Hospital of University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital , Sichuan, China.
authors.forename: Yanan
authors.initials: Y
authors.lastname: Di
authors.affiliation: Sichuan Provincial Key Laboratory for Human Disease Gene Study, The Institute of Laboratory Medicine, Hospital of University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital , Sichuan, China.
authors.forename: Ning
authors.initials: N
authors.lastname: Li
authors.affiliation: Sichuan Provincial Key Laboratory for Human Disease Gene Study, The Institute of Laboratory Medicine, Hospital of University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital , Sichuan, China.
authors.forename: Yuanying
authors.initials: Y
authors.lastname: Miao
authors.affiliation: Sichuan Provincial Key Laboratory for Human Disease Gene Study, The Institute of Laboratory Medicine, Hospital of University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital , Sichuan, China.
authors.forename: Yu
authors.initials: Y
authors.lastname: Zhou
authors.affiliation: Sichuan Provincial Key Laboratory for Human Disease Gene Study, The Institute of Laboratory Medicine, Hospital of University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital , Sichuan, China.
authors.forename: Yuanfeng
authors.initials: Y
authors.lastname: Li
authors.affiliation: Sichuan Provincial Key Laboratory for Human Disease Gene Study, The Institute of Laboratory Medicine, Hospital of University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital , Sichuan, China.
authors.forename: Jiyun
authors.initials: J
authors.lastname: Yang
authors.affiliation: Sichuan Provincial Key Laboratory for Human Disease Gene Study, The Institute of Laboratory Medicine, Hospital of University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Sichuan, China; Clinical Medicine College, Sichuan Medical University, Sichuan, China.
authors.forename: Zhenglin
authors.initials: Z
authors.lastname: Yang