Giant axonal neuropathy is a severe autosomal recessive neurodegenerative 
disorder of childhood that affects both the peripheral and central nervous 
systems. It is caused by mutations in the GAN gene linked to chromosome 16q24.1 
At least 45 distinct disease-causing mutations have been identified throughout 
the gene in families of various ethnic origins, with different symptomatologies 
and different clinical courses. To date, no characteristic mutation or 
phenotype-genotype correlation has been established. We describe a novel 
missense mutation in four siblings born to consanguineous parents of Arab 
original with clinical and molecular features compatible with giant axonal 
neuropathy. The phenotype was characterized by a predominant motor and sensory 
peripheral neuropathies and severe skeletal deformities.