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

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, Jozef Gecz

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27 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)806-809
Number of pages4
JournalEuropean Journal of Human Genetics
Issue number7
Publication statusPublished - 1 Jul 2012


  • OFD1
  • X-linked Joubert
  • X-linked intellectual disability
  • massively parallel sequencing

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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