Neonatal Med.  2016 Aug;23(3):178-182. 10.5385/nm.2016.23.3.178.

Identification of a Novel Nonsense Mutation in the ARSE Gene of a Patient with X-Linked Recessive Chondrodysplasia Punctata

• Doo JW
• Jang JH
• Cho EH
• Kim JK
• Cho SC

• KMID: 2350289
• DOI: http://doi.org/10.5385/nm.2016.23.3.178

Abstract

X-linked recessive chondrodysplasia punctata (CDPX1) is caused by a hemizygous mutation in the arylsulfatase E (ARSE) gene located on chromosome Xp22.3. It is a rare congenital disorder of punctate calcifications in cartilages, leading to short stature and facial and limb anomalies. These clinical features are frequently observed in all types of chondrodysplasia punctata and have also been seen in other cartilage developmental disorders. Because of the phenotypical similarities, specific testing for only one gene is inefficient and time consuming. The advent of next-generation sequencing has provided an opportunity to improve diagnostic accuracy as well as save on time and cost. Here, we report on a patient diagnosed with CDPX1, who was identified via diagnostic exome sequencing to have a novel nonsense mutation in the ARSE gene, that was inherited from the mother.

Keyword

Arylsulfatase E; X-linked recessive chondrodysplasia punctata; Next-generation sequencing; Stippled epiphyses

MeSH Terms

Cartilage
Chondrodysplasia Punctata*
Codon, Nonsense*
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Exome
Extremities
Humans
Mothers
Codon, Nonsense