title: 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.
authors.affiliation: Department of Clinical Pathology and Clinical Genetics, and Department of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden.
authors.forename: Ekaterina
authors.initials: E
authors.lastname: Kuchinskaya
authors.affiliation: Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden. Giedre.Grigelioniene@ki.se.|Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden. Giedre.Grigelioniene@ki.se.
authors.forename: Giedre
authors.initials: G
authors.lastname: Grigelioniene
authors.affiliation: Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.|Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
authors.forename: Anna
authors.initials: A
authors.lastname: Hammarsjö
authors.affiliation: Division of Pediatric Orthopaedics, Seoul National University Children's Hospital, Seoul, Republic of Korea.
authors.forename: Hye-Ran
authors.initials: HR
authors.lastname: Lee
authors.affiliation: Department of Paediatrics and Department of Clinical and Experimental Medicine, Linköping University, Norrköping, Sweden.
authors.forename: Lotta
authors.initials: L
authors.lastname: Högberg
authors.affiliation: Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
authors.forename: Gintautas
authors.initials: G
authors.lastname: Grigelionis
authors.affiliation: Department of Radiology, Woorisoa Children's Hospital, Seoul, Republic of Korea.
authors.forename: Ok-Hwa
authors.initials: OH
authors.lastname: Kim
authors.affiliation: Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
authors.forename: Gen
authors.initials: G
authors.lastname: Nishimura
authors.affiliation: Department of Paediatrics and Department of Clinical and Experimental Medicine, Linköping University, Norrköping, Sweden. tjcho@snu.ac.k.
authors.forename: Tae-Joon
authors.initials: TJ
authors.lastname: Cho
mesh_terms: D000328:Adult; D002352:Carrier Proteins / Q000235:genetics*; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000235:genetics; D004413:Dysostoses / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D012272:Ribs / Q000002:abnormalities*; D013131:Spine / Q000002:abnormalities*; D055815:Young Adult
chemical_list: C476724:BMPER protein, human; D002352:Carrier Proteins