Background: X-linked recessive chondrodysplasia punctate (CDPX1) is a rare congenital disorder of bone and cartilage development, caused by a mutation in the arylsulfatase E (ARSE) gene located on chromosome Xp22.3. Although most of the affected men had mild symptoms, some had more severe symptoms, and had a poor prognosis.
Case presentation: We present the case of a male fetus diagnosed with CDPX1. Ultrasound clearly showed that hypoplasia of the midface, flatness of face, low flatness of the nose, collapse of the tip of the nose, accompanied by severe spinal stenosis and secondary ossification center of the femoral metaphysis appeared in advance. Chromosome analysis of the amniotic fluid cells revealed 46, XY. Whole exome sequencing showed that there was a novel missense mutation of c.640G > A in ARSE gene on X chromosome. Three protein function prediction software FATHMM、Polyphen-2、PROVEAN have shown that the novel missense mutation of c.640G > A in this study was pathogenic.
Conclusions: Our case is a novel mutation and presents a typical characterization of the disease, which can expand the spectrum of mutations of the ARSE gene and is helpful for prenatal ultrasound diagnosis of this disease.
Keywords: Arylsulfatase E; Prenatal ultrasound; Whole exome sequencing; X-linked recessive chondrodysplasia punctate.