Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum

Sara Taghizadeh ^1,2 , Raheleh Vazehan ³, Maryam Beheshtian ^1,3 , Farnaz Sadeghinia ¹, Zohreh Fattahi ^1,3, Marzieh Mohseni ^1,3, Sanaz Arzhangi ¹, Shahriar Nafissi ⁴, Ariana Kariminejad ³, Hossein Najmabadi ^1,3 * , Kimia Kahrizi ¹ *

Cited by CrossRef: 9

1- Benquey T, Pion E, Cossée M, Krahn M, Stojkovic T, Perrin A, Cerino M, Molon A, Lia A, Magdelaine C, Francou B, Guiochon-Mantel A, Malinge M, Leguern E, Lévy N, Attarian S, Latour P, Bonello-Palot N. A National French Consensus on Gene List for the Diagnosis of Charcot–Marie–Tooth Disease and Related Disorders Using Next-Generation Sequencing. Genes. 2022;13(2):318 [Crossref]

2- Geroldi A, Mammi A, Gaudio A, Patrone S, La Barbera A, Origone P, Ponti C, Sanguineri F, Massucco S, Marinelli L, Grandis M, Schenone A, Mandich P, Bellone E, Gotta F. Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation. J Med Genet. 2024;61(9):847 [Crossref]

3- Gao J, He J, Zhang F, Xiao Q, Cai X, Yi X, Zheng S, Zhang Y, Wang D, Zhu G, Wang J, Shen B, Ralser M, Guo T, Zhu Y. Integration of protein context improves protein-based COVID-19 patient stratification. Clin Proteom. 2022;19(1) [Crossref]

4- Grosz B, Parmar J, Ellis M, Bryen S, Simons C, Reis A, Stevanovski I, Deveson I, Nicholson G, Laing N, Wallis M, Ravenscroft G, Kumar K, Vucic S, Kennerson M. A deep intronic variant in MME causes autosomal recessive Charcot–Marie–Tooth neuropathy through aberrant splicing. J Peripheral Nervous Sys. 2024;29(2):262 [Crossref]

5- Sharma S, Govindaraj P, Chickabasaviah Y, Siram R, Shroti A, Seshagiri D, Debnath M, Bindu P, Taly A, Nagappa M. Genetic Spectrum of Inherited Neuropathies in India. 2022;25(3):407 [Crossref]

6- Karayel-Basar M, Uras I, Kiris I, Sahin B, Akgun E, Baykal A. Spatial proteomic alterations detected via MALDI-MS imaging implicate neuronal loss in a Huntington's disease mouse (YAC128) brain. Mol Omics. 2022;18(4):336 [Crossref]

7- Jamiri Z, Khosravi R, Heidari M, Kiani E, Gharechahi J. A nonsense mutation inMMEgene associates with autosomal recessive late‐onsetCharcot–Marie–Toothdisease. Molec Gen & Gen Med. 2022;10(5) [Crossref]

8- Sadr Z, Rohani M, Jamali P, Alavi A. A case report of concurrent occurrence of two inherited axonopathies within a family: the benefit of whole-exome sequencing. International Journal of Neuroscience. 2024;134(11):1282 [Crossref]

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A Monthly Peer-Reviewed Medical Journal Published by the Academy of Medical Sciences of the I.R. Iran; Indexed in PubMed/MEDLINE, ISI Web of Science, EMBASE, SCOPUS, CINHAL, PASCAL, CSA, SID, ISSN: Print 1029-2977, Online 1735-3947.The impact factor of Archives of Iranian Medicine according to Journal Citation Reports® (JCR®) 2016 is 1.20.