IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome.
IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome.
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DOI：
10.1093/hmg/ddu044
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发表时间：
2014-06-15
影响因子：
3.5
通讯作者：
Alkuraya, Fowzan S
中科院分区：
文献类型：
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作者：
Aldahmesh, Mohammed A;Li, Yuanyuan;Alkuraya, Fowzan S
Bardet-Biedl综合征（BBS）是一种常染色体隐性纤毛病，累及多系统。到目前为止，已经鉴定出18个BBS基因，其中大多数对BBSome的功能至关重要，BBSome是一种参与将膜蛋白转运到纤毛和从纤毛转运到纤毛的蛋白质复合物。然而，已鉴定基因的缺陷并不能解释所有的BBS病例。这种疾病的遗传异质性对其他BBS基因的鉴定提出了重大挑战。在这项研究中，我们将人类遗传学与斑马鱼的功能验证结合起来，鉴定出IFT27是一个新的BBS基因（BBS19）。这是鞭毛内转运（IFT）基因首次与BBS的发病机制有关，突出了这种疾病的遗传复杂性。
Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy with multisystem involvement. So far, 18 BBS genes have been identified and the majority of them are essential for the function of BBSome, a protein complex involved in transporting membrane proteins into and from cilia. Yet defects in the identified genes cannot account for all the BBS cases. The genetic heterogeneity of this disease poses significant challenge to the identification of additional BBS genes. In this study, we coupled human genetics with functional validation in zebrafish and identified IFT27 as a novel BBS gene (BBS19). This is the first time an intraflagellar transport (IFT) gene is implicated in the pathogenesis of BBS, highlighting the genetic complexity of this disease.