The first reported case of the DRAGON gene deletion in human. A case with a de-novo interstitial deletion of chromosome 5q15-21.1

摘要

Chondrodysplasia punctata (CDP) is an etiologically heterogenous condition caused by single gene disorders, chromosome abnormalities, maternal diseases or exposures to teratogens. We report a male fetus with rhizomelic CDP associated with deletion at 5q15-5q21.1. This segment contains the DRAGON gene, a bone morphogenetic factor co-receptor, also known as RGMb (repulsive guidance molecule b). It is postulated that its haplo-insufficiency is associated with the phenotype in this fetus. The mother (30yo, G2P0SA1L0) was referred at 19.3 weeks for abnormal antenatal ultrasound findings of short limbs, short splayed digits, brachycephaly, small cistern magna, hypoplastic inferior cerebellar vermis, micrognathia, multiple intracardiac echogenic foci and 2-vessel umbilical cord. There was no history of maternal disease/ exposures. The pregnancy was terminated at 21 weeks. Autopsy confirmed the ultrasound findings and in addition showed brain hypomyelination with ...