扩大与 OFD1 突变相关的 X 连锁杰特综合征的分子基础和表型谱。
Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations.
机构信息
Genetics of Learning Disability Service, Newcastle, New South Wales, Australia.
出版信息
Eur J Hum Genet. 2012 Jul;20(7):806-9. doi: 10.1038/ejhg.2012.9. Epub 2012 Feb 22.
Abstract
Using a combination of linkage mapping and massively parallel sequencing of the X-chromosome exome, we identified an 18-bp deletion in exon 8 of the oral-facial-digital syndrome type 1 (OFD1) gene in a family with X-linked Joubert syndrome (JBTS10). The deletion results in an in-frame deletion of six amino acids. New features not noted in the two previously reported cases of X-linked Joubert syndrome include the presence of polycystic kidney disease, polymicrogyria and hydrocephalus. Our study further underlines the power of genetic mapping combined with massively parallel sequencing as a powerful tool for novel disease gene and mutation discovery.
摘要
我们通过 X 染色体外显子组的连锁图谱和大规模平行测序相结合的方法，在一个具有 X 连锁杰特综合征（JBTS10）的家族中发现了 1 型口面指（趾）综合征（OFD1）基因第 8 外显子的 18bp 缺失。该缺失导致六个氨基酸的框内缺失。在之前报道的两个 X 连锁杰特综合征病例中未发现的新特征包括多囊肾病、多小脑回和脑积水。我们的研究进一步强调了遗传图谱与大规模平行测序相结合作为发现新疾病基因和突变的强大工具的强大功能。
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