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|Title:||Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations|
|Citation:||European Journal of Human Genetics, 2012; 20(7):806-809|
|Publisher:||Nature Publishing Group|
|Michael Field, Ingrid E Scheffer, Deepak Gill, Meredith Wilson, Louise Christie, Marie Shaw, Alison Gardner, Georgie Glubb, Lynne Hobson, Mark Corbett, Kathryn Friend, Saffron Willis-Owen and Jozef Gecz|
|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.|
|Keywords:||OFD1; X-linked Joubert; X-linked intellectual disability; massively parallel sequencing|
|Rights:||© 2012 Macmillan Publishers|
|Appears in Collections:||Paediatrics publications|
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