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Open Access 01-12-2016 | Letter to the Editor

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

Authors: Ekaterina Kuchinskaya, Giedre Grigelioniene, Anna Hammarsjö, Hye-Ran Lee, Lotta Högberg, Gintautas Grigelionis, Ok-Hwa Kim, Gen Nishimura, Tae-Joon Cho

Published in: Orphanet Journal of Rare Diseases | Issue 1/2016

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.

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Title: Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis
Authors: Ekaterina Kuchinskaya
Giedre Grigelioniene
Anna Hammarsjö
Hye-Ran Lee
Lotta Högberg
Gintautas Grigelionis
Ok-Hwa Kim
Gen Nishimura
Tae-Joon Cho
Publication date: 01-12-2016
Publisher: BioMed Central
Published in: Orphanet Journal of Rare Diseases / Issue 1/2016
Electronic ISSN: 1750-1172
DOI: https://doi.org/10.1186/s13023-015-0380-0

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

Abstract

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Abstract

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