Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia
Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia
复制标题
DOI：
10.1016/s0092-8674(00)80260-3
复制
发表时间：
1997-05-30
期刊：
影响因子：
64.5
通讯作者：
Olsen, BR
中科院分区：
文献类型：
--
作者：
Mundlos, S;Otto, F;Olsen, BR
锁骨颅发育不良（CCD）是一种常染色体显性疾病，其特征是锁骨发育不全、囟门未闭、牙齿多余、身材矮小以及骨骼模式和生长的其他变化。在一些家族中，表型分离并缺失导致转录因子runt家族成员CBFA1的杂合缺失。在其他家族中，插入、缺失和错义突变导致翻译终止密码子位于DNA结合域或c端反激活区。在患有短指和轻微CCD临床表现的受影响家庭中，聚丙氨酸拉伸分离的框架内扩张。我们得出结论，CBFA1突变导致CCD，杂合功能丧失足以产生这种疾病。
Cleidocranial dysplasia (CCD) is an autosomal-dominant condition characterized by hypoplasia/aplasia of clavicles, patent fontanelles, supernumerary teeth, short stature, and other changes in skeletal patterning and growth. In some families, the phenotype segregates with deletions resulting in heterozygous loss of CBFA1, a member of the runt family of transcription factors. In other families, insertion, deletion, and missense mutations lead to translational stop codons in the DNA binding domain or in the C-terminal transactivating region. In-frame expansion of a polyalanine stretch segregates in an affected family with brachydactyly and minor clinical findings of CCD. We conclude that CBFA1 mutations cause CCD and that heterozygous loss of function is sufficient to produce the disorder.