A novel mutation in the GAN gene causes an intermediate form of giant axonal neuropathy in an Arab-Israeli family

作者：Abu Rashid M; Mahajnah M^*; Jaber L; Kornreich L; Bar On E; Basel Vanagaite L; Soffer D; Koenig M; Straus**erg R

来源：European Journal of Paediatric Neurology, 2013, 17(3): 259-264.

DOI：10.1016/j.ejpn.2012.10.012

• Giant axonal neuropathy
• Gigaxonin
• GAN mutations
• Clinical phenotype

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.

• 出版日期2013-5