Diaphanospondylodysostosis: Refining the prenatal diagnosis of a rare skeletal disorder

Lior Greenbaum, Yinon Gilboa, Annick Raas-Rothschild, Ortal Barel, Nitzan Kol, Haike Reznik-Wolf, Ben Pode-Shakked, Yael Finezilber, Baruch Messing, Michal Berkenstadt*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


Diaphanospondylodysostosis (DSD) is a rare autosomal recessive skeletal disorder, characterized mainly by ossification defects in vertebrae, thorax malformations, renal cystic dysplasia and usually death in the perinatal period. DSD is caused by mutations in the bone morphogenetic protein-binding endothelial regulator (BMPER) gene. We describe the prenatal findings of a non-consanguineous Jewish couple (shared Balkan origin), with three affected fetuses that presented with malformations in the spine and chest, reduced ossification of the skull and spine, horseshoe kidney and increased nuchal translucency. The unique combination of these ultrasound (US) features raised the possibility of DSD, which was confirmed by whole exome sequencing (WES) performed on a single fetal DNA and familial segregation. In the three fetuses, a novel homozygous mutation in BMPER (c.410T > A; p.Val137Asp) was found. This mutation, which segregated in the family, was not found in 65 controls of Jewish Balkan origin, and in several large databases. Taken together, the combination of a detailed prenatal US examination and WES may be highly effective in confirming the diagnosis of a rare genetic disease, in this case DSD.

Original languageEnglish
Pages (from-to)167-171
Number of pages5
JournalEuropean Journal of Medical Genetics
Issue number3
StatePublished - Mar 2019


  • Diaphanospondylodysostosis
  • Ischiospinal dysostosis
  • Skeletal dysplasia


Dive into the research topics of 'Diaphanospondylodysostosis: Refining the prenatal diagnosis of a rare skeletal disorder'. Together they form a unique fingerprint.

Cite this