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BioMed Central, Orphanet Journal of Rare Diseases, 1(11), 2016

DOI: 10.1186/s13023-015-0380-0

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

Journal article published in 2016 by Ekaterina Kuchinskaya, Giedre Grigelioniene, Anna Hammarsjö, Anna Hammarsjรถ, Hye-Ran Lee, Lotta Högberg, Lotta Hรถgberg, Gintautas Grigelionis, Ok-Hwa Kim, Gen Nishimura, Tae-Joon Cho ORCID
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

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.