Treacher Collins syndrome
Treacher Collins syndrome
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DOI：
10.1111/j.1601-6343.2007.00388.x
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发表时间：
2007-05-01
影响因子：
3.1
通讯作者：
Dixon, M. J.
中科院分区：
文献类型：
--
作者：
Dixon, J.;Trainor, P.;Dixon, M. J.
Treacher柯林斯综合征（TCS）是一种面部发育的常染色体显性遗传疾病，大约每50000例活产婴儿中就有1例受影响（1）。超过60%的病例似乎没有以前的家族史，并被认为是由于从头突变（2）。根据TCS中受影响的组织从第一和第二鳃弓发育而来，其广泛分布有颅神经嵴细胞（3），提出了几种假设来解释这种疾病的细胞基础。这些理论包括神经嵴细胞迁移异常（4），发育过程中细胞分化不当（5）或细胞外基质异常（6）。使用遗传、物理和转录图谱技术鉴定了TCS中突变的基因，命名为TCOF 1，发现其编码一种低复杂性、富含丝氨酸/丙氨酸的核仁磷蛋白，命名为Treacle（7）。近年来，分子生物学、细胞生物学、小鼠遗传学和实验胚胎学的结合为TCS的分子发病机制提供了新的见解。
Treacher Collins syndrome (TCS) is an autosomal dominant disorder of facial development which affects approximately 1 in 50 000 live births (1). More than 60% of cases do not appear to have a previous family history and are thought to arise as the result of a de novo mutation (2). On the basis that the tissues affected in TCS develop from the first and second branchial arches, which are populated extensively by cranial neural crest cells (3), several hypotheses were proposed to explain the cellular basis of this disorder. These theories included abnormal neural crest cell migration (4), improper cellular differentiation during development (5) or an abnormality of the extracellular matrix (6). The use of genetic, physical and transcript mapping techniques resulted in the identification of the gene mutated in TCS, designated TCOF1, which was found to encode a low complexity, serine/alanine-rich, nucleolar phosphoprotein that was named Treacle (7). More recently, the integration of molecular biology, cell biology, mouse genetics and experimental embryology has provided novel insights into the molecular pathogenesis of TCS.