Kuchinskaya Ekaterina, Grigelioniene Giedre, Hammarsjö Anna, Lee Hye-Ran, Högberg Lotta, Grigelionis Gintautas, Kim Ok-Hwa, Nishimura Gen, Cho Tae-Joon
Department of Clinical Pathology and Clinical Genetics, and Department of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden.
Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Orphanet J Rare Dis. 2016 Jan 4;11:1. doi: 10.1186/s13023-015-0380-0.
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.
坐骨椎骨发育不全（ISD）是一种多部位发育不全，其特征为坐骨发育不全、颈胸椎多节段异常、腰骶椎发育不全，偶尔还与肾母细胞瘤病相关。ISD与一种名为透明脊椎发育不全（DSD）的致死性/半致死性疾病相似，但症状较轻，DSD与骨形态发生蛋白结合内皮调节蛋白（BMPER）基因的纯合或复合杂合突变有关。在此，我们首次报告了两名ISD患者的双等位基因BMPER突变，这两名患者均无肾脏异常。我们的数据支持并进一步扩展了BMPER相关骨骼疾病的表型变异性。
