Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/72408
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Type: Journal article
Title: Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations
Author: Field, M.
Scheffer, I.
Gill, D.
Wilson, M.
Christie, L.
Shaw, M.
Gardner, A.
Glubb, G.
Hobson, L.
Corbett, M.
Friend, K.
Willis-Owen, S.
Gecz, J.
Citation: European Journal of Human Genetics, 2012; 20(7):806-809
Publisher: Nature Publishing Group
Issue Date: 2012
ISSN: 1018-4813
1476-5438
Statement of
Responsibility: 
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
RMID: 0020120254
DOI: 10.1038/ejhg.2012.9
Appears in Collections:Paediatrics publications

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