Crouzon syndrome: Genetic and intervention review.
Crouzon syndrome: Genetic and intervention review.
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DOI：
10.1016/j.jobcr.2018.08.007
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发表时间：
2019-01-01
影响因子：
--
通讯作者：
Rahman, Z A
中科院分区：
文献类型：
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作者：
Al-Namnam, N M;Hariri, F;Rahman, Z A
Crouzon综合征表现出相当大的表型异质性，遗传学在其病因学中起着重要作用。FGFR 2介导细胞外信号进入细胞，FGFR 2基因的突变导致这种综合征的发生。活化的FGF/FGFR 2信号传导通过其下游信号通路破坏分化、细胞增殖和凋亡的平衡。然而，很少有人知道的细胞和分子因素，导致这种表型的严重性。揭示颅缝早闭症的分子病理学特征，对遗传咨询、诊断、预后和早期干预具有重要价值。这篇简短的综述总结了Crouzon综合征遗传性疾病的基础和最新科学文献，并提出了一种渐进的遗传方法，诊断和管理这种复杂的颅面缺陷的策略。
Crouzon syndrome exhibits considerable phenotypic heterogeneity, in the aetiology of which genetics play an important role. FGFR2 mediates extracellular signals into cells and the mutations in the FGFR2 gene cause this syndrome occurrence. Activated FGFs/FGFR2 signaling disrupts the balance of differentiation, cell proliferation, and apoptosis via its downstream signal pathways. However, very little is known about the cellular and molecular factors leading to severity of this phenotype. Revealing the molecular pathology of craniosynostosis will be a great value for genetic counselling, diagnosis, prognosis and early intervention programs. This mini-review summarizes the fundamental and recent scientific literature on genetic disorder of Crouzon syndrome and presents a graduated strategy for the genetic approach, diagnosis and the management of this complex craniofacial defect.