Diaphanospondylodysostosis and ischiospinal dysostosis, evidence for one disorder with variable expression in a patient who has survived to age 9 years
Diaphanospondylodysostosis and ischiospinal dysostosis, evidence for one disorder with variable expression in a patient who has survived to age 9 years
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DOI：
10.1002/ajmg.a.38395
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发表时间：
2017-10-01
影响因子：
2
通讯作者：
Giampietro, Philip F.
中科院分区：
文献类型：
--
作者：
Legare, Janet M.;Seaborg, Kristin;Giampietro, Philip F.
棘突脊柱发育不良（DSD）和坐骨脊柱发育不良（ISD）都是罕见的骨骼发育不良，包括轴骨发育异常和尾骨发育正常。最近发现这两种疾病都是由BMPER基因突变引起的。我们报告了一个BMPER基因缺失和突变的患者，其特征与DSD最一致，但存活到9岁。生存率表明，DSD和ISD反映了一种疾病过程的严重程度。
Diaphanospondylodysostosis (DSD) and ischiospinal dysostosis (ISD) are both rare skeletal dysplasias consisting of abnormal axial skeletal development but normal appendicular skeletal development. Both disorders recently have been found to result from mutations in the BMPER gene. We report a patient with one deletion and one mutation of the BMPER gene who has features most consistent with DSD but who has survived to age 9 years. Survival suggests that DSD and ISD reflect a spectrum of severity of one disease process.