Random X chromosome inactivation in female Charcot-Marie-Tooth disease type X1: insights from sural nerve biopsy analysis

• Published in: BMC neurology Vol. 25; no. 1; pp. 321 - 7
• Main Authors: Bekircan-Kurt, Can Ebru, Aksu-Menges, Evrim, Kumtepe, Eray Taha, Durmaz, Ceren Damla, Terzi, Yunus Kasim, Ergul-Ulger, Zeynep, Temucin, Çagri Mesut, Erdem-Ozdamar, Sevim, Tan, Ersin, Balci-Hayta, Burcu
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 04.08.2025; BioMed Central; BMC
• Subjects: Age; Analysis; Androgen receptors; Androgens; Biopsy; Care and treatment; Charcot-Marie-Tooth disease; Connexin 32; Demyelination; Development and progression; Disease; DNA methylation; DNA sequencing; Females; Gene mutations; Genetic aspects; Genetic screening; Genetic testing; Genetic variability; Genetic variation; Genotype & phenotype; Gjb1 gene; Health aspects; HUMARA assay; Hypotheses; Males; Mutation; Neuropathy; Nucleotide sequencing; Patients; Phenotypic variability; Polyneuropathy; Proteins; Schwann cells; Sural nerve; Sural nerve biopsy; Whole genome sequencing; X chromosome inactivation; X chromosomes; X-linked Charcot-Marie-Tooth disease type 1; Turkey; United States > US; HUMARA assay; Phenotypic variability; Sural nerve biopsy; X-linked Charcot-Marie-Tooth disease type 1; X chromosome inactivation

Background X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) is a hereditary neuropathy caused by mutations in the GJB1 gene encoding Connexin 32 (Cx32). Despite its X-linked dominant inheritance, it has been suggested that the variable phenotypic expression of the disease in females may be due to...