Gdap1-Related Charcot–Marie–Tooth Disease: Axonal or Demyelinating Subtype? Autosomal Recessive or Autosomal Dominant Inheritance?

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Gdap1-Related Charcot–Marie–Tooth Disease: Axonal or Demyelinating Subtype? Autosomal Recessive or Autosomal Dominant Inheritance? Publisher Pubmed

M Ravanbod MOEZ ; M Mohammadi MAHSA ; A Ghasemi AIDA ; S Jabbarzadeh SOLMAZ ; Aa Okhovat Ali ASGHAR ; M Khani MARZIEH ; E Elahi ELAHE ; M Ramezani MAHTAB ; S Nafissi SHAHRIAR ; A Alavi AFAGH

Source: Journal of the Peripheral Nervous System Published:2025

Abstract

Background and Aims: The GDAP1 gene encodes a mitochondrial outer membrane protein crucial for mitochondrial function. Mutations in this gene are associated with different subtypes of Charcot–Marie-Tooth (CMT) disease, inherited in either an autosomal recessive or dominant manner. In this study, we discuss the clinical and genetic aspects of 11 unrelated Iranian GDAP1-related CMT families. Methods: The probands were selected from a large CMT cohort after whole exome sequencing (WES) analysis. 11 GDAP1-related CMT families–16 patients—were included in this study. Co-segregation analysis was performed to confirm the candidate variants. Results: In total, eight exonic variants in GDAP1 were identified; two were novel. Among all known variants, a deep intronic variant, c.311-23A>G, was found in two families. 11/16 patients were AR-CMT2K, three were CMT4A, and only two had AD-CMT2K. Interpretation: Among our variants, two were more significant: c.311-23A>G, which has only been documented in another Iranian family and may represent a founder mutation within our population, and c.347T>G, which has exclusively been reported within the Italian population and is recognized as a founder mutation in that country. We found this variant in three unrelated families, suggesting that this variant is not confined to Italy and that codon 347 may be a hotspot codon. Our findings extend the clinical and genetic aspects of GDAP1-related CMT and emphasize the need to consider intronic variants in genetic analysis. Additionally, we highlight that AD-CMT2K has a milder phenotype than other GDAP1-related disease types, which could result in an underestimation of the number of AD-CMT2K cases. © 2025 Elsevier B.V., All rights reserved.

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Style	Citing Format
MLA	M Ravanbod MOEZ, et al.. "Gdap1-Related Charcot–Marie–Tooth Disease: Axonal or Demyelinating Subtype? Autosomal Recessive or Autosomal Dominant Inheritance?." Journal of the Peripheral Nervous System, vol. 30, no. 3, 2025, pp. -.
APA	M Ravanbod MOEZ, M Mohammadi MAHSA, A Ghasemi AIDA, S Jabbarzadeh SOLMAZ, Aa Okhovat Ali ASGHAR, M Khani MARZIEH, E Elahi ELAHE, M Ramezani MAHTAB, S Nafissi SHAHRIAR, A Alavi AFAGH (2025). Gdap1-Related Charcot–Marie–Tooth Disease: Axonal or Demyelinating Subtype? Autosomal Recessive or Autosomal Dominant Inheritance?. Journal of the Peripheral Nervous System, 30(3), -.
Chicago	M Ravanbod MOEZ, M Mohammadi MAHSA, A Ghasemi AIDA, S Jabbarzadeh SOLMAZ, Aa Okhovat Ali ASGHAR, M Khani MARZIEH, E Elahi ELAHE, M Ramezani MAHTAB, S Nafissi SHAHRIAR, A Alavi AFAGH. "Gdap1-Related Charcot–Marie–Tooth Disease: Axonal or Demyelinating Subtype? Autosomal Recessive or Autosomal Dominant Inheritance?." Journal of the Peripheral Nervous System 30, no. 3 (2025): -.
Harvard	M Ravanbod MOEZ et al. (2025) 'Gdap1-Related Charcot–Marie–Tooth Disease: Axonal or Demyelinating Subtype? Autosomal Recessive or Autosomal Dominant Inheritance?', Journal of the Peripheral Nervous System, 30(3), pp. -.
Vancouver	M Ravanbod MOEZ, M Mohammadi MAHSA, A Ghasemi AIDA, S Jabbarzadeh SOLMAZ, Aa Okhovat Ali ASGHAR, M Khani MARZIEH, et al.. Gdap1-Related Charcot–Marie–Tooth Disease: Axonal or Demyelinating Subtype? Autosomal Recessive or Autosomal Dominant Inheritance?. Journal of the Peripheral Nervous System. 2025;30(3):-.
BibTex	@article{ author = {M Ravanbod MOEZ and M Mohammadi MAHSA and A Ghasemi AIDA and S Jabbarzadeh SOLMAZ and Aa Okhovat Ali ASGHAR and M Khani MARZIEH and E Elahi ELAHE and M Ramezani MAHTAB and S Nafissi SHAHRIAR and A Alavi AFAGH}, title = {Gdap1-Related Charcot–Marie–Tooth Disease: Axonal or Demyelinating Subtype? Autosomal Recessive or Autosomal Dominant Inheritance?}, journal = {Journal of the Peripheral Nervous System}, volume = {30}, number = {3}, pages = {-}, year = {2025} }
RIS	TY - JOUR AU - M Ravanbod MOEZ AU - M Mohammadi MAHSA AU - A Ghasemi AIDA AU - S Jabbarzadeh SOLMAZ AU - Aa Okhovat Ali ASGHAR AU - M Khani MARZIEH AU - E Elahi ELAHE AU - M Ramezani MAHTAB AU - S Nafissi SHAHRIAR AU - A Alavi AFAGH TI - Gdap1-Related Charcot–Marie–Tooth Disease: Axonal or Demyelinating Subtype? Autosomal Recessive or Autosomal Dominant Inheritance? JO - Journal of the Peripheral Nervous System VL - 30 IS - 3 SP - EP - PY - 2025 ER -

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