A novel deleterious mutation in the COMP gene that causes pseudoachondroplasia

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. New genetic marker improves detection of dwarfism Researchers have identified a mutation linked to pseudoachondroplasia (PSACH), a developmental disorder which causes dwarfism. While PSACH has already been linked to a specific gene, genetic tests for the condition are uncommon because traditional sequencing is costly and time-consuming. As a result, the disease is usually not diagnosed until the patient is two to three years old. Jiyun Yang and Zhenglin Yang of the Sichuan Provincial People’s Hospital in China used modern, high-throughput sequencing to simultaneously examine a panel of 249 genes related to bone disease in a PSACH patient. They discovered a novel mutation in the gene linked with PSACH, providing a new genetic marker for the disorder. Using the panel, PSACH can be tested for along with other bone disorders in a single examination and detected early.