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首页> 外文期刊>European journal of neurology: the official journal of the European Federation of Neurological Societies >Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity.
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Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity.

机译：常染色体隐性遗传性痉挛性截瘫伴thin体稀薄：SPG11基因的新突变和遗传异质性的进一步证据。

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BACKGROUND AND PURPOSE: Autosomal Recessive Hereditary Spastic Paraplegia with Thin Corpus Callosum (AR-HSPTCC) is a clinically and genetically heterogeneous complicated form of spastic paraplegia. Two AR-HSPTCC loci have been assigned to chromosome 15q13-15 (SPG11) and chromosome 8p12-p11.21 respectively. Mutations in the SPG11 gene, encoding the spatacsin protein, have been found in the majority of SPG11 families. In this study, involvement of the SPG11 or 8p12-p11.21 loci was investigated in five Italian families, of which four consanguineous. METHODS: Families were tested for linkage to the SPG11 or 8p12-p11.21 loci and the SPG11 gene was screened in all the affected individuals. RESULTS: Linkage was excluded in the four consanguineous families. In the only SPG11-linked family the same homozygous haplotype 4.2 cM across the SPG11 locus was shared by all the three affected siblings. A novel c.2608A>G mutation predicted to affect the splicing was found in exon 14 of the SPG11 gene. DISCUSSION: This collection of families contributes to highlight the intra and inter locus heterogeneity in AR-HSPTCC, already remarked in previous reports. In particular, it confirms heterogeneity amongst Italian families and reports a new mutation predicted to affect splicing in the spatacsin gene.
机译：背景与目的：常染色体隐性遗传性痉挛性截瘫伴薄Corp体（AR-HSPTCC）是痉挛性截瘫的临床和遗传异质性复杂形式。已将两个AR-HSPTCC基因座分别分配给15q13-15染色体（SPG11）和8p12-p11.21染色体。在大多数SPG11家族中都发现了编码spatacsin蛋白的SPG11基因突变。在这项研究中，在五个意大利家庭中调查了SPG11或8p12-p11.21基因座的参与，其中四个是近亲的。方法：测试家庭与SPG11或8p12-p11.21基因座的连锁性，并在所有受影响的个体中筛选SPG11基因。结果：在四个近亲家庭中没有联系。在唯一的与SPG11连接的家族中，所有三个受影响的兄弟姐妹在整个SPG11基因座上具有相同的纯合单倍型4.2 cM。在SPG11基因的第14外显子中发现了一个预期会影响剪接的新c.2608A> G突变。讨论：这些家族的集合有助于突出AR-HSPTCC内部和内部基因座的异质性，这在先前的报告中已经提到。特别是，它证实了意大利家庭之间的异质性，并报告了预计会影响spatacsin基因剪接的新突变。

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