Identification of a novel frameshift mutation in the ARSE gene of a newborn boy diagnosed with chondrodysplasia punctata 1 (CDPX1)

X-linked chondrodysplasia punctata (CDPX 1) is a congenital disorder characterized by abnormalities in cartilage and bone development Here, we examined a young, male subject diagnosed with chondrodysplasia punctata presented by typical radiologic findings of calcific stippling at the vertebrae as well as in the sacral area. CDPX 1 has long been thought to be a hereditary disease of generalized skeletal dysplasia. We discovered a de novo frame shift mutation in the arylsulphatase gene, ARSE, which generated an early stop codon. Remarkably, the mother of the newborn subject consumed Chinese herbs, cnidiir rhizome, during the entire pregnancy period. To the best of our knowledge, this is the first report of chondrodysplasia punctata that is correlated with mutations in exon 9 of the ARSE gene. Furthermore, we postulated that consuming specific herbs during prolonged periods while pregnant could be directly or indirectly related to the occurrence of mutation in the ARSE gene and may as a consequence lead to drug embryopathy.