Giant axonal neuropathy: a rare inherited neuropathy with a novel mutation

Demir E, Bomont P, Erdem S, Cavalier L, Demirci M, Kose G et al (2005) Giant axonal neuropathy: clinical and genetic study in six cases. J Neurol Neurosurg Psychiatry 76(6):825–832

Article  CAS  PubMed  PubMed Central  Google Scholar 

Normendez-Martínez MI, Monterde-Cruz L, Martínez R, Marquez-Harper M, Esquitin-Garduño N, Valdes-Flores M et al (2018) Two novel mutations in the GAN gene causing giant axonal neuropathy. World J Pediatr 14(3):298–304

Article  PubMed  Google Scholar 

Chen P-H, Hu J, Wu J, Huynh DT, Smith TJ, Pan S et al (2020) Gigaxonin glycosylation regulates intermediate filament turnover and may impact giant axonal neuropathy etiology or treatment. JCI Insight.;5(1)

Vafaee-Shahi M, Ghasemi S, Ghahvechi-Akbar M, Tahernia L, Davarzani A, Hajati R et al (2020) Giant axonal neuropathy: the first Iranian case with a variation in the gigaxonin gene and a glance to the other cases. Curr J Neurol 19(4):200

PubMed  PubMed Central  Google Scholar 

Tazir M, Nouioua S, Magy L, Huehne K, Assami S, Urtizberea A et al (2009) Phenotypic variability in giant axonal neuropathy. Neuromuscul Disord 19(4):270–274

Article  PubMed  Google Scholar 

Vijaykumar K, Bindu PS, Taly AB, Mahadevan A, Bharath RD, Gayathri N et al (2015) Giant axonal neuropathy. J Child Neurol 30(7):912–915

Article  PubMed  Google Scholar 

Iemura A, Iwasaki M, Yamakawa N, Tomiwa K, Anji Y, Sakakihara Y et al (2016) Influence of sleep-onset time on the development of 18-month-old infants: Japan Children’s cohort study. Brain Develop 38(4):364–372

Article  Google Scholar 

Almeida G Jr, Silva RMe, Batista SL, Pasetto F (2016) Pili Canaliculi as manifestation of giant axonal neuropathy. An Bras Dermatol 91(5 suppl 1):125–127

Article  PubMed  Google Scholar 

Ouvrier RA (1989) Giant axonal neuropathy a review. Brain Develop 11(4):207–214

Article  CAS  Google Scholar 

Garg M, Kulkarni SD, Hegde AU, Desai M, Sayed RJ (2018) Giant axonal neuropathy: clinical, radiological, and genetic features. Ann Indian Acad Neurol 21(4):304–308

Article  PubMed  PubMed Central  Google Scholar 

Ashrafi MR, Dehnavi AZ, Tavasoli AR, Heidari M, Ghahvechi Akbari M, Ronagh AR et al (2023) Expanding the genetic spectrum of giant axonal neuropathy: two novel variants in Iranian families. Mol Genet Genom Med 11(6):e2159

Article  CAS  Google Scholar 

Edem P, Karakaya M, Wirth B, Okur TD, Yiş U (2019) Giant axonal neuropathy: a differential diagnosis of consideration. Turk J Pediatr 61(2):275–278

Article  PubMed  Google Scholar 

Bharucha-Goebel DX, Norato G, Saade D, Paredes E, Biancavilla V, Donkervoort S et al (2021) Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort. Brain 144(10):3239–3250

Article  PubMed  PubMed Central  Google Scholar 

Li H, Durbin R (2009) Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25(14):1754–1760. https://doi.org/10.1093/bioinformatics/btp324

Article  CAS  PubMed  PubMed Central  Google Scholar 

Danecek P, Bonfield JK, Liddle J, Marshall J, Ohan V, Pollard MO, Whitwham A, Keane T, McCarthy SA, Davies RM (2021) Twelve years of SAMtools and BCFtools. GigaScience, 10(2), giab008

Bolger AM, Lohse M, Usadel B (2014) Trimmomatic: a flexible trimmer for Illumina sequence data. Bioinformatics 30(15):2114–2120

Article  CAS  PubMed  PubMed Central  Google Scholar 

McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M, DePristo MA (2010) The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 20(9):1297–1303

Article  CAS  PubMed  PubMed Central  Google Scholar 

Poplin R, Chang PC, Alexander D, Schwartz S, Colthurst T, Ku A, Newburger D, Dijamco J, Nguyen N, Afshar PT, Gross SS, Dorfman L, McLean CY, Depristo MA (2018) A universal snp and small-indel variant caller using deep neural networks. Nat Biotechnol 36(10):983–987. https://doi.org/10.1038/nbt.4235

Article  CAS  PubMed  Google Scholar 

Chang X, Wang K (2012) Wannovar: annotating genetic variants for personal genomes via the web. J Med Genet 49(7):433–436. https://doi.org/10.1136/jmedgenet-2012-100918

Article  PubMed  Google Scholar 

Wang K, Li M, Hakonarson H (2010) ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 38(16):e164–e164. https://doi.org/10.1093/nar/gkq603

Article  CAS  PubMed  PubMed Central  Google Scholar 

Yang H, Wang K (2015) Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR. Nat Protoc 10(10):1556–1566. https://doi.org/10.1038/nprot.2015.105

Article  CAS  PubMed  PubMed Central  Google Scholar 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL (2015) Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in Medicine, 17(5), 405–423

Kopanos C, Tsiolkas V, Kouris A, Chapple CE, Albarca Aguilera M, Meyer R, Massouras A (2019) VarSome: the human genomic variant search engine. Bioinformatics 35(11):1978

Article  CAS  PubMed  Google Scholar 

Kniffin CL (2013), November 6 Intellectual developmental disorder, autosomal recessive 38; MRT38. Online Mendelian Inheritance in Man. Retrieved February 13, 2024, from https://www.omim.org/entry/615516

Sabarinathan R, Tafer H, Seemann SE, Hofacker IL, Stadler PF, Gorodkin J (2013) The RNAsnp web server: predicting SNP effects on local RNA secondary structure. Nucleic Acids Res 41W1:W475–W479. https://doi.org/10.1093/nar/gkt291

Article  Google Scholar 

Pettersen EF, Goddard TD, Huang CC, Couch GS, Greenblatt DM, Meng EC, Ferrin TE (2004) UCSF Chimera - A visualization system for exploratory research and analysis. J Comput Chem 25(13):1605–1612. https://doi.org/10.1002/jcc.20084

Article  CAS  PubMed  Google Scholar 

National Center for Biotechnology Information (n.d.). ORF Finder. Retrieved from https://www.ncbi.nlm.nih.gov/orffinder/

Karczewski KJ, Francioli LC, Tiao G et al (2020) The mutational constraint spectrum quantified from variation in 141,456 humans. Nature 581(7809):434–443. https://doi.org/10.1038/s41586-020-2314-9

Article  CAS  PubMed  PubMed Central  Google Scholar 

The 1000 Genomes Project Consortium (2015) A global reference for human genetic variation. Nature 526(7571):68–74. https://doi.org/10.1038/nature15393

Article  CAS  Google Scholar 

Roth LA, Johnson-Kerner BL, Marra JD, LaMarca NH, Sproule DM (2014) The absence of curly hair is associated with a milder phenotype in Giant Axonal Neuropathy. Neuromuscul Disord 24(1):48–55

Article  PubMed  Google Scholar 

Lescouzères L, Bomont P (2020) E3 ubiquitin ligases in neurological diseases: focus on gigaxonin and autophagy. Front Physiol 11:568645

Article  Google Scholar 

Johnson-Kerner BL, Roth L, Greene JP, Wichterle H, Sproule DM (2014) Giant axonal neuropathy: an updated perspective on its pathology and pathogenesis. Muscle Nerve 50(4):467–476

Article  CAS  PubMed  Google Scholar 

Crete R, Jorgensen SA, Towbin AJ, Towbin R (2018) Giant axonal neuropathy. Appl Radiol 47(5):40–41

Article  Google Scholar 

Bharucha-Goebel DX, Todd J, Saade D, Norato G, Jain M, Lehky T, Bailey RM et al (2024) Intrathecal Gene Therapy for Giant Axonal Neuropathy. N Engl J Med 21(12):1092–1104. https://doi.org/10.1056/NEJMoa2307952

Article  Google Scholar 

Comments (0)

No login
gif