Caput membranaceum: A novel clinical presentation of ZIC1 related skull malformation and craniosynostosis
Caput membranaceum: A novel clinical presentation of ZIC1 related skull malformation and craniosynostosis
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头膜：ZIC1相关颅骨畸形和颅缝早闭的新临床表现
DOI：
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发表时间：
2020
期刊：
影响因子：
--
通讯作者：
W. Reardon
中科院分区：
文献类型：
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作者：
Erina Sasaki;A. Byrne;D. Murray;W. Reardon
我们报告了一名出生时患有孤立性膜头颅骨畸形和部分双冠颅缝早闭的患者的临床和放射学特征，该患者在ZIC 1中存在一种新的新生杂合错义变异[NM_003412. 3：c.1183C>G，p.（Pro395Ala）]。膜状头或无骨颅骨是颅骨骨化缺陷的一种罕见表现。它可能是由孤立的、扩大的顶骨孔引起的，也可能是与矿化不良相关的骨骼发育不良综合征的一部分，如磷酸盐过少症、II型骨生成障碍和Saethre-Chotzen综合征。它们的致病基因被很好地描述。ZIC 1，小脑锌指蛋白1（OMIM #600470）属于ZIC家族基因，每个基因编码一个含Cys 2 His 2-型锌指结构域的转录因子。近年来的研究表明，ZIC 1基因的致病性变异对人类中枢神经系统和颅骨的发育具有不良影响。报告了ZIC 1相关的临床状况，包括小脑畸形、Dandy-步行者畸形、脊髓闭合不全、小头畸形和伴智力残疾的颅缝早闭。迄今为止，尚未报告ZIC 1致病性变异导致孤立性膜头。我们的观察增加了ZIC 1相关颅骨畸形的临床谱。
We report clinical and radiological features of a patient born with an isolated skull malformation of caput membranaceum and partial bicoronal craniosynostosis with a novel, de novo heterozygous missense variant in ZIC1 [NM_003412.3:c.1183C>G, p.(Pro395Ala)]. Caput membranaceum, or boneless skull, is a rare manifestation of skull ossification defect. It can result from an isolated, enlarged parietal foramina or it can present as part of skeletal dysplasia syndromes associated with poor mineralization such as hypophosphatasia, osteogenesis imperfecta type II, and Saethre‐Chotzen syndrome. Their causative genes are well described. ZIC1, Zinc Finger protein of the cerebellum 1 (OMIM #600470) belongs to ZIC family genes, each encoding a Cys2 His2‐type zinc finger domain‐containing transcription factors. Recent studies have shown that pathogenic variants in ZIC1 have deleterious effect in developing human central nerves system and skull bone. ZIC1 related clinical conditions are reported and include cerebellum malformation, Dandy‐Walker malformation, spinal dysraphism, microcephaly, and craniosynostosis with associated intellectual disability. To‐date, there is no report of pathogenic variant in ZIC1 causing isolated caput membranaceum. Our observation adds to the clinical spectrum of ZIC1 related skull malformation.
影响因子：
3.5
作者：
Miller, MP;Kumar, S
通讯作者：
Kumar, S