SPATA7基因的突变会导致莱伯先天性黑矇和青少年视网膜色素变性。
Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.
作者信息
Wang Hui, den Hollander Anneke I, Moayedi Yalda, Abulimiti Abuduaini, Li Yumei, Collin Rob W J, Hoyng Carel B, Lopez Irma, Abboud Emad B, Al-Rajhi Ali A, Bray Molly, Lewis Richard Alan, Lupski James R, Mardon Graeme, Koenekoop Robert K, Chen Rui
机构信息
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
出版信息
Am J Hum Genet. 2009 Mar;84(3):380-7. doi: 10.1016/j.ajhg.2009.02.005. Epub 2009 Mar 5.
Abstract
Leber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP) are the most common hereditary causes of visual impairment in infants and children. Using homozygosity mapping, we narrowed down the critical region of the LCA3 locus to 3.8 Mb between markers D14S1022 and D14S1005. By direct Sanger sequencing of all genes within this region, we found a homozygous nonsense mutation in the SPATA7 gene in Saudi Arabian family KKESH-060. Three other loss-of-function mutations were subsequently discovered in patients with LCA or juvenile RP from distinct populations. Furthermore, we determined that Spata7 is expressed in the mature mouse retina. Our findings reveal another human visual-disease gene that causes LCA and juvenile RP.
摘要
莱伯先天性黑蒙（LCA）和青少年视网膜色素变性（RP）是婴幼儿视力障碍最常见的遗传病因。通过纯合性定位，我们将LCA3基因座的关键区域缩小至标记D14S1022和D14S1005之间的3.8 Mb。通过对该区域内所有基因进行直接桑格测序，我们在沙特阿拉伯家族KKESH - 060的SPATA7基因中发现了一个纯合无义突变。随后在来自不同人群的LCA或青少年RP患者中又发现了另外三个功能丧失突变。此外，我们确定Spata7在成熟小鼠视网膜中表达。我们的研究结果揭示了另一个导致LCA和青少年RP的人类视觉疾病基因。
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