Neonatal Medicine  2016;23(3):178-182

doi: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.

Jin Woong DOO 1 ; Ja Hyun JANG ; Eun Hae CHO ; Jin Kyu KIM ; Soo Chul CHO

Affiliations

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Keywords

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

Country

Republic of Korea

Language

English

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.