Prenatal findings in a fetus with X-linked recessive type of chondrodysplasia punctata (CDPX1): a case report with novel mutation.

Abstract

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.

• Authors: Guannan He, Yan Yin, Jing Zhao, Xueyan Wang, Jiaxiang Yang, Xi Chen, Li Ding, Yan Bai
• Journal: BMC pediatrics (BMC Pediatr) Vol. 19 Issue 1 Pg. 250 (07 23 2019) ISSN: 1471-2431 [Electronic] England
• PMID: 31337364 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Topics

• Chondrodysplasia Punctata (diagnostic imaging, genetics)
• Fetal Diseases (diagnostic imaging, genetics)
• Fetus
• Genetic Diseases, X-Linked (diagnostic imaging, genetics)
• Genetic Testing
• Humans
• Magnetic Resonance Imaging
• Male
• Mutation, Missense
• Parents
• Pedigree
• Ultrasonography, Prenatal
• Exome Sequencing