title: Septo-optic dysplasia - novel insights into the aetiology.
abstract: Septo-optic dysplasia (SOD) is a highly heterogeneous condition comprising a variable phenotype of optic nerve hypoplasia, midline brain abnormalities and pituitary hypoplasia with consequent endocrine deficits. The majority of cases are sporadic and several aetiologies have been suggested to account for the pathogenesis of the condition. However, a number of familial cases have been described and the identification of mutations in key developmental genes including HESX1, SOX2 and SOX3 in patients with SOD and associated phenotypes suggests that a genetic causation is likely in the more common sporadic cases of the condition. The precise aetiology of SOD is most likely multifactorial involving contributions from environmental factors in addition to an important role for crucial developmental genes. The variability of the penetrance and phenotypes within a single SOD pedigree may also suggest a complex interaction between genetics and the environment, and at present, the understanding of these interactions is rudimentary. Further study of these critical factors may shed light on the aetiology of this complex disorder. We have reviewed recent literature selecting relevant references based on the keywords HESX1, SOX2, SOX3, Septo-optic dysplasia, genetics and pituitary development.
authors.affiliation: Institute of Child Health, London, UK. D.Kelberman@ich.ucl.ac.uk
authors.forename: Daniel
authors.initials: D
authors.lastname: Kelberman
authors.forename: Mehul Tulsidas
authors.initials: MT
authors.lastname: Dattani
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D004268:DNA-Binding Proteins / Q000235:genetics / Q000502:physiology; D024002:HMGB Proteins / Q000235:genetics / Q000502:physiology; D006609:High Mobility Group Proteins / Q000235:genetics / Q000502:physiology; D018398:Homeodomain Proteins / Q000235:genetics / Q000502:physiology; D006801:Humans; D008954:Models, Biological; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide; D055748:SOXB1 Transcription Factors; D025962:Septo-Optic Dysplasia / Q000209:etiology* / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics / Q000502:physiology
chemical_list: D004268:DNA-Binding Proteins; C489736:HESX1 protein, human; D024002:HMGB Proteins; D006609:High Mobility Group Proteins; D018398:Homeodomain Proteins; C527782:SOX2 protein, human; C527785:SOX3 protein, human; D055748:SOXB1 Transcription Factors; D014157:Transcription Factors