Prenatal Diagnosis in a Fetus with X-linked Recessive Chondrodysplasia Punctata: Identification and Functional Study of a Novel Missense Mutation in ARSE

X-linked recessive chondrodysplasia punctata (CDPX1) is a rare orthopedic disorder characterized by stippled epiphyses, brachytelephalangy, and nasomaxillary hypoplasia. Studies have shown that the molecular pathogenesis of the disease is the function loss of arylsulfatase E (ARSE, also known as ARSL), which plays an important role in osteogenesis. In our work, there is a prenatal screening case in which a novel mutation of unknown significance in the ARSE gene was found by WES. In silico analysis tools were used to help us analyze the mutation. After that, functional analysis in vitro was followed up to study the function of this novel mutations. This study reveals the pathogenicity and pathogenic mechanism of the novel mutations, which enrich the mutation spectrum of the disease, and provide scientific basis for prenatal screening, gene diagnosis and treatment.