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- Title
Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis.
- Authors
Kuchinskaya, Ekaterina; Grigelioniene, Giedre; Hammarsjö, Anna; Hye-Ran Lee; Högberg, Lotta; Grigelionis, Gintautas; Kim, Ok-Hwa; Nishimura, Gen; Tae-Joon Cho; Lee, Hye-Ran; Cho, Tae-Joon
- Abstract
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.
- Subjects
PHENOTYPES; SKELETON; DYSOSTOSIS; SPINE abnormalities; BONE morphogenetic proteins; CARRIER proteins; GENETIC mutation; DISEASES; RIB abnormalities; CRANIOFACIAL abnormalities; DIAGNOSIS
- Publication
Orphanet Journal of Rare Diseases, 2016, Vol 11, p1
- ISSN
1750-1172
- Publication type
letter
- DOI
10.1186/s13023-015-0380-0