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GENATLAS PHENOTYPE
last update : 23-01-2009
Symbol OHS
Location Xq21.1
Name occipital horn syndrome, cutis laxa
Other name(s)
  • Ehlers-Danlos syndrome type IX
  • Ehlers-Danlos syndrome, occipital horn type
    • Corresponding gene ATP7A
    Other symbol(s) EDS9
    Main clinical features
  • characterized by skin laxity, hyperextensible joints, bladder diverticula, pectus excavatum and carinatum, caracteristic occipital exostoses
  • radiographically, bony 'horns,' symmetrically situated on each side of the foramen magnum and pointing caudad
    • Genetic determination sex linked
    Related entries allelic to MNK
    Function/system disorder metabolism/metal
    connective tissue
    Type disease
    Gene product
    Name copper-transporting ATPase
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    frameshift   truncated protein in exon 23 resulting in a truncated ATP7A and no functional protein
    abnormal splicing     alternative splicing of ATP7A exon 10, abolishing Golgi localization of the protein with splice-site of intron 6 mutation resulting in exon 6 skipping, exon 10 skipping due to an A->T transversion in the splice site of intron 10
    Remark(s)