SPG11突变在复杂型遗传性痉挛性截瘫的家族病例中很常见。
SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia.
作者信息
Paisan-Ruiz C, Dogu O, Yilmaz A, Houlden H, Singleton A
机构信息
Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, 35 Lincoln Drive, Building 35, Room 1A1015, Bethesda, MD 20824, USA.
出版信息
Neurology. 2008 Apr 15;70(16 Pt 2):1384-9. doi: 10.1212/01.wnl.0000294327.66106.3d. Epub 2008 Mar 12.
BACKGROUND
Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is a common form of complex hereditary spastic paraplegia. The genetic lesion underlying ARHSP-TCC was localized to chromosome 15q13-q15 and given the designation SPG11. Recently, the gene encoding spatacsin (KIAA1840) has been shown to contain mutations that underlie the majority of ARHSP-TCC cases.
METHODS
We present a complete analysis of the 40 coding exons of this gene in patients with sporadic (n = 25) or familial (20 probands) complex hereditary spastic paraplegia with and without thinning of the corpus callosum.
RESULTS
We identified seven mutations, including deletions, insertions, and nonsense mutations, which were all predicted to lead to premature truncation of the protein.
CONCLUSION
We conclude that mutations on KIAA1840 are frequent in complex autosomal recessive hereditary spastic paraplegia but an infrequent cause of sporadic complex hereditary spastic paraplegia.
背景
伴有胼胝体变薄（TCC）的常染色体隐性遗传性痉挛性截瘫（ARHSP）是复杂遗传性痉挛性截瘫的常见形式。ARHSP-TCC的潜在遗传病变定位于染色体15q13-q15，并命名为SPG11。最近，编码spatacsin（KIAA1840）的基因已被证明包含大多数ARHSP-TCC病例的突变。
方法
我们对散发性（n = 25）或家族性（20名先证者）伴有或不伴有胼胝体变薄的复杂遗传性痉挛性截瘫患者的该基因40个编码外显子进行了全面分析。
结果
我们鉴定出7种突变，包括缺失、插入和无义突变，所有这些突变预计都会导致蛋白质过早截断。
结论
我们得出结论，KIAA1840突变在复杂的常染色体隐性遗传性痉挛性截瘫中很常见，但在散发性复杂遗传性痉挛性截瘫中是不常见的病因。
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