Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis
2016 (English)In: Orphanet Journal of Rare Diseases, ISSN 1750-1172, E-ISSN 1750-1172, Vol. 11, no 1Article in journal (Refereed) PublishedText
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.
Place, publisher, year, edition, pages
BIOMED CENTRAL LTD , 2016. Vol. 11, no 1
Ischiospinal dysostosis; Diaphanospondylodysostosis; BMPER; Vertebral anomaly; Ischial hypoplasia
IdentifiersURN: urn:nbn:se:liu:diva-124466DOI: 10.1186/s13023-015-0380-0ISI: 000367514900001PubMedID: 26728142OAI: oai:DiVA.org:liu-124466DiVA: diva2:899804
Funding Agencies|Stockholm County Council; Karolinska Institutet; Kronprinsessan Lovisas; Axel Tiellmans Minnesfond Foundation; Samariten Foundation; Sallskapet Barnavard Foundation; Promobilia Foundations; Genome Technology to Business Translation Program of the National Research Foundation (NRF) - Ministry of Science, ICT & Future Planning of the government of Republic of Korea [NRF-2014M3C9A2064684]2016-02-022016-02-012016-03-03