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Two novel mutations in theGAN gene causing giant axonal neuropathy

World Journal of Pediatrics 2018年第3期14卷 298-304页

作者： Monica Irad Normendez-Martínez Lucero Monterde-Cruz Roberto Martínez Magdalena Marquez-Harper nayelli esquitin-garduno Margarita Valdes-Flores Leonora Casas-Avila Valeria Ponce de Leon-Suarez Viktor Javier Romero-Díaz Alberto Hidalgo-Bravo Medical Specialties Hospital Boulevard Milenio 130San Carlos la Roncha37660 LeonGuanajuatoMexico Department of Gene tics National Institute of R ehabilitationAvenue Mexico-Xochimilco 28914389 Me xico CityMexico Department ofHis tology School ofMedicineAutonomous University oft heS tate ofN uevo LeonMonterreyMexico

Background Giant axonal neuropathy (GAN) is a rare neurodegenerative disease transmitted in an autosomal recessive mode. This disorder presents motor and sensitive symptoms with an onset in early childhood. Progressive neurodegeneration makes the patients wheelchair dependent by the end of the second decade of life. Affected individuals do not survive beyond the third decade of life. Molecular analysis has identified mutations in the gene GAN in patients with this disorder. This gene produces a protein called gigaxonin which is presumably involved in protein degradation via the ubiquitin-proteasome system. However, the underlying molecular mechanism is not clearly understood yet. Methods Here we present the fi rst patient from Mexico with clinical data suggesting GAN. Sequencing of the GAN gene was carried out. Changes in the nucleotide sequence were investigated for their possible impact on protein function and structure using the publicly available prediction tools PolyPhen-2 and PANTHER. Results The patient is a compound heterozygous carrying two novel mutations in the GAN gene. The sequence analy-sis revealed two missense mutations in the Kelch repeats domain. In one allele, a C>T transition was found in exon 9 at the nucleotide position 55393 (g.55393C>T). In the other allele, a transversion G>T in exon 11 at the nucleotide position 67471 (g.67471G>T) was observed. Both of the bioinformatic tools predicted that these amino acid substitutions would have a negative impact on gigaxonin's function. Conclusion This work provides useful information for health professionals and expands the spectrum of disease-causing mutations in the GAN gene and it is the first documented case in Mexican population.

关键词： GAN Genetics Giant axonal neuropathy Incapacity Neurodegenerative

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