SA Yoon, JS Kim, JH Lee

Abstract

Chondrodysplasia punctata is characterised by punctate or popcorn-like calcium deposits in cartilage observed on X-rays. X-linked dominant chondrodysplasia punctata (CDPX2) is characterised by bone, skin, and eye abnormalities. Mutations in emopamil binding protein (EBP) gene cause CDPX2. EBP gene mutation leads to defect of cholesterol biosynthesis pathway. CDPX2 is an X-linked dominant disorder so there are different clinical phenotypes between male and female. We report a variant in the EMP gene in a 2-day-old female with a variable CDPX2 phenotype including typical skeletal anomaly (stippling), skin defect, and cataract. The prenatal ultrasound found the fetal asymmetric femur but chondrodysplasia punctata was not suspicious. After birth, in the next-generation sequencing panel for skeletal dysplasia, a heterozygous mutation in the EBP gene (NM_006579.2) was detected (c.204G>T, p.Trp68Cys). The clinical phenotype of CDPX2 is variable, especially in affected females, so early diagnosis can result in early treatment with medicine and surgery for significant ocular (cataract) and skeletal anomaly and a better prognosis can be expected.