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GENATLAS PHENOTYPE
last update : 28/10/2008
Symbol HNA
Location 17q25.3
Name hereditary neuralgic amyotrophy
Other name(s) neuritis with brachial predilection
Corresponding gene SEPT9
Other symbol(s) BPN, NAPB
Main clinical features
  • acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm
  • associated in any cases with an apparent dysmorphic syndrome, including hypotelorism, blepharophimosis, slight ptosis, epicanthal folds, microstomia and dysmorphic ears
    • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease
    Gene product
    Name septin 9
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    duplication   over-expression intragenic 38 Kb SEPT9 duplication (Gonzalez 2009)
    Remark(s) mutations alter modes of interaction with partner molecules in cells, and consequently contribute to the pathogenesis (suppression of Rhotekin-SEPT9 interaction)