Lin Wang, Shuji Mizumoto, Ruixue Zhang, Yuqi Zhang, Yuan Liu, Wenjing Cheng, Xin Li, Min Dan, Chunyan Zhang, Xinru Gao, Juan Wang, Jiaqi Han, Lianying Jiao, Yating Wang, Qiujie Jin, Lihui Yang, Chenxing Li, Shuxian Li, Jinhui Zhu, Hai Jiang, Gen Nishimura, Takahiro Yamada, Shuhei Yamada, Na Cai, Rong Qiang, Long Guo
Spondylocostal dysostosis (SCDO) encompasses a group of skeletal disorders characterized by multiple segmentation defects in the vertebrae and ribs. SCDO has a complex genetic etiology. This study aimed to analyze and identify pathogenic variants in a fetus with SCDO. Copy number variant sequencing and whole exome sequencing were performed on a Chinese fetus with SCDO, followed by bioinformatics analyses, in vitro functional assays and a systematic review on the reported SCDO cases with LFNG pathogenic variants...
April 2, 2024: Journal of Human Genetics