Article
Giant axonal neuropathy with novel GAN pathogenic variant in a patient of consanguineous origin from Poonch Jammu and Kashmir-India.
Molecular biology reports - 1 Feb 2021
Mir Yaser Rafiq, Zeng Xue, Taneja Atul K, Hassan Asima, Sheth Jayesh, Kuchay Raja A H
Abstract excerpt
Giant axonal neuropathy (GAN) is a severe and rare autosomal recessive neurodegenerative disorder of childhood affecting both the peripheral and central nervous systems (CNS). It is caused by mutations in the GAN (gigaxonin) gene linked to chromosome 16q24. Here, we present a 15-year-old male patient with GAN from a consanguineous family of Poonch, Jammu and Kashmir (J&K)-India. Whole-exome sequencing (WES) was...
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