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Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis
Linköping University, Department of Clinical and Experimental Medicine, Division of Cell Biology. Linköping University, Faculty of Medicine and Health Sciences.
Karolinska Institute, Sweden; Karolinska University Hospital, Sweden.
Karolinska Institute, Sweden; Karolinska University Hospital, Sweden.
Seoul National University, South Korea.
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2016 (English)In: Orphanet Journal of Rare Diseases, ISSN 1750-1172, E-ISSN 1750-1172, Vol. 11, no 1Article in journal (Refereed) PublishedText
Abstract [en]

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
Keyword [en]
Ischiospinal dysostosis; Diaphanospondylodysostosis; BMPER; Vertebral anomaly; Ischial hypoplasia
National Category
Clinical Medicine
URN: urn:nbn:se:liu:diva-124466DOI: 10.1186/s13023-015-0380-0ISI: 000367514900001PubMedID: 26728142OAI: 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]

Available from: 2016-02-02 Created: 2016-02-01 Last updated: 2016-03-03

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Kuchinskaya, EkaterinaHögberg, Lotta
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Division of Cell BiologyFaculty of Medicine and Health SciencesDivision of Clinical SciencesDepartment of Paediatrics in NorrköpingDepartment of Clinical and Experimental Medicine
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