S-Space College of Medicine/School of Medicine (의과대학/대학원) Orthopedic Surgery (정형외과학전공) Journal Papers (저널논문_정형외과학전공)
Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis
- Kuchinskaya, Ekaterina; Grigelioniene, Giedre; Hammarsjö, Anna; Lee, Hye-Ran; Högberg, Lotta; Grigelionis, Gintautas; Kim, Ok-Hwa; Nishimura, Gen; Cho, Tae-Joon
- Issue Date
- BioMed Central
- Orphanet Journal of Rare Diseases, 11(1):1
- Ischiospinal dysostosis; Diaphanospondylodysostosis; BMPER; Vertebral anomaly; Ischial hypoplasia
- Ischiospinal dysostosis (ISD) is a polytopic dysostosis characterized by ischial hypoplasia, multiple segmental anomalies of the cervicothoracic spine, hypoplasia of the lumbrosacral spine and occasionally associated with nephroblastomatosis. ISD is similar to, but milder than the lethal/semilethal condition termed diaphanospondylodysostosis (DSD), which is associated with homozygous or compound heterozygous mutations of bone morphogenetic protein-binding endothelial regulator protein (BMPER) gene. Here we report for the first time biallelic BMPER mutations in two patients with ISD, neither of whom had renal abnormalities. Our data supports and further extends the phenotypic variability of BMPER-related skeletal disorders.