期刊
EUROPEAN JOURNAL OF HUMAN GENETICS
卷 20, 期 7, 页码 806-809出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ejhg.2012.9
关键词
OFD1; X-linked Joubert; X-linked intellectual disability; massively parallel sequencing
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. European Journal of Human Genetics (2012) 20, 806-809; doi: 10.1038/ejhg.2012.9; published online 22 February 2012
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