Florijn Ralph J, Loves Willem, Maillette de Buy Wenniger-Prick Liesbeth J J M, Mannens Marcel M A M, Tijmes Nel, Brooks Simon P, Hardcastle Alison J, Bergen Arthur A B
Department of Clinical and Molecular Ophthalmogenetics, The Netherlands Institute for Neuroscience, Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands.
Eur J Hum Genet. 2006 Sep;14(9):986-90. doi: 10.1038/sj.ejhg.5201671. Epub 2006 May 31.
Mutations in the NHS gene cause Nance-Horan Syndrome (NHS), a rare X-chromosomal recessive disorder with variable features, including congenital cataract, microphthalmia, a peculiar form of the ear and dental anomalies. We investigated the NHS gene in four additional families with NHS from the Netherlands, by dHPLC and direct sequencing. We identified an unique mutation in each family. Three out of these four mutations were not reported before. We report here the first splice site sequence alteration mutation and three protein truncating mutations. Our results suggest that X-linked cataract and NHS are allelic disorders.
NHS基因的突变会导致南斯-霍兰综合征（NHS），这是一种罕见的X染色体隐性疾病，具有多种特征，包括先天性白内障、小眼症、特殊的耳部形态和牙齿异常。我们通过变性高效液相色谱（dHPLC）和直接测序，对来自荷兰的另外四个患有NHS的家庭中的NHS基因进行了研究。我们在每个家庭中都鉴定出了一个独特的突变。这四个突变中有三个之前未曾报道过。我们在此报告了首个剪接位点序列改变突变和三个蛋白质截短突变。我们的结果表明，X连锁白内障和NHS是等位基因疾病。
