Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome
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DOI：
10.1038/ng.724
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发表时间：
2011-01-01
期刊：
影响因子：
30.8
通讯作者：
Wieczorek, Dagmar
中科院分区：
文献类型：
--
作者：
Dauwerse, Johannes G.;Dixon, Jill;Wieczorek, Dagmar
我们确定了一个缺失的基因编码的RNA聚合酶I和III，POLR 1D，在个人与特雷彻柯林斯综合征（TCS）。随后，我们在252名TCS患者中检测到另外20个POLR1D杂合突变。此外，我们发现在这两个等位基因的POLR1C在三个人与TCS的突变。这些发现确定了另外两个参与TCS的基因，证实了TCS的遗传异质性，并支持TCS是核糖体病的假设。
We identified a deletion of a gene encoding a subunit of RNA polymerases I and III, POLR1D, in an individual with Treacher Collins syndrome (TCS). Subsequently, we detected 20 additional heterozygous mutations of POLR1D in 252 individuals with TCS. Furthermore, we discovered mutations in both alleles of POLR1C in three individuals with TCS. These findings identify two additional genes involved in TCS, confirm the genetic heterogeneity of TCS and support the hypothesis that TCS is a ribosomopathy.