Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations

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dc.contributor.authorField, M.
dc.contributor.authorScheffer, I.
dc.contributor.authorGill, D.
dc.contributor.authorWilson, M.
dc.contributor.authorChristie, L.
dc.contributor.authorShaw, M.
dc.contributor.authorGardner, A.
dc.contributor.authorGlubb, G.
dc.contributor.authorHobson, L.
dc.contributor.authorCorbett, M.
dc.contributor.authorFriend, K.
dc.contributor.authorWillis-Owen, S.
dc.contributor.authorGecz, J.
dc.date.issued2012
dc.description.abstractUsing 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.
dc.description.statementofresponsibilityMichael 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
dc.identifier.citationEuropean Journal of Human Genetics, 2012; 20(7):806-809
dc.identifier.doi10.1038/ejhg.2012.9
dc.identifier.issn1018-4813
dc.identifier.issn1476-5438
dc.identifier.orcidShaw, M. [0000-0002-5060-190X]
dc.identifier.orcidGardner, A. [0009-0009-7321-1697]
dc.identifier.orcidCorbett, M. [0000-0001-9298-3072]
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]
dc.identifier.urihttp://hdl.handle.net/2440/72408
dc.language.isoen
dc.publisherNature Publishing Group
dc.rights© 2012 Macmillan Publishers
dc.source.urihttps://doi.org/10.1038/ejhg.2012.9
dc.subjectOFD1
dc.subjectX-linked Joubert
dc.subjectX-linked intellectual disability
dc.subjectmassively parallel sequencing
dc.titleExpanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations
dc.typeJournal article
pubs.publication-statusPublished

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