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Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis.

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.

SUBMITTER: Kuchinskaya E 

PROVIDER: S-EPMC4700746 | biostudies-other | 2016

REPOSITORIES: biostudies-other

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Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis.

Kuchinskaya Ekaterina E   Grigelioniene Giedre G   Hammarsjö Anna A   Lee Hye-Ran HR   Högberg Lotta L   Grigelionis Gintautas G   Kim Ok-Hwa OH   Nishimura Gen G   Cho Tae-Joon TJ  

Orphanet journal of rare diseases 20160104

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) ge  ...[more]