title: Homozygous null mutation in ODZ3 causes microphthalmia in humans.
abstract: OBJECTIVE
  Microphthalmia is a condition in which eyes are small in size, often associated with coloboma, as a result of aberrant eye development. Isolated microphthalmia is a model disease for studying early development of the human eye, and mutations in several key genes related to eye development have been linked to this phenotype.
  
  
  METHODS
  In our search for novel genes that cause autosomal recessive microphthalmia when mutated, we enrolled a family that consists of third-cousin parents and two children with isolated colobomatous microphthalmia.
  
  
  RESULTS
  Exome and autozygome analysis identified a null mutation in ODZ3, one of four vertebrate orthologs of odz in Drosophila.
  
  
  CONCLUSIONS
  Our data highlight a role for ODZ3 in the early development of the human eye.
authors: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
authors: Mohammed A
authors: MA
authors: Aldahmesh
authors: Jawahir Y
authors: JY
authors: Mohammed
authors: Selwa
authors: S
authors: Al-Hazzaa
authors: Fowzan S
authors: FS
authors: Alkuraya
mesh_terms: D001483:Base Sequence; D002648:Child; D002877:Chromosomes, Human / Q000235:genetics; D003103:Coloboma / Q000175:diagnosis / Q000235:genetics; D017124:Conserved Sequence; D059472:Exome; D005123:Eye / Q000254:growth & development / Q000473:pathology; D005260:Female; D020022:Genetic Predisposition to Disease; D015894:Genome, Human; D006720:Homozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008850:Microphthalmos / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype
chemical_list: D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C575832:TENM3 protein, human