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

Eur J Hum Genet. 2012 Jul;20(7):806-9. doi: 10.1038/ejhg.2012.9. Epub 2012 Feb 22.

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.

Publication types

  • Case Reports

MeSH terms

  • Cerebellar Diseases / genetics
  • Child
  • Child, Preschool
  • Chromosomes, Human, X / genetics
  • Exons
  • Genetic Diseases, X-Linked / genetics*
  • Genetic Linkage
  • Humans
  • Infant
  • Intellectual Disability / genetics
  • Male
  • Mutation*
  • Orofaciodigital Syndromes / genetics*
  • Pedigree
  • Phenotype*
  • Proteins / genetics*
  • Sequence Deletion
  • Speech Disorders / genetics
  • Syndrome

Substances

  • OFD1 protein, human
  • Proteins

Supplementary concepts

  • Orofaciodigital syndrome type1