Investigation of Mutations in Exon 14 of Gene and Exon 7 of Gene in Iranian Charcot-Marie-Tooth Disease Type 4 (CMT4D) Patients.

OBJECTIVES

Charcot-Marie-tooth disease type 4 (CMT4D) is an autosomal recessive form of Charcot-Marie-tooth disease with an earlier age of onset and greater severity, compared to other types of this disease. CMT4C and CMT4D are the most prevalent subtypes in Mediterranean countries due to the higher rate of consanguineous marriage. In this study, we aimed to identify p.R148X mutation in gene and p.R1109X mutation in gene (responsible for CMT4D and CMT4C, respectively) and to investigate other possible nucleotide changes in exon 14 of gene and exon 7 of gene in an Iranian population.

MATERIALS & METHODS: A total of 24 CMT4D patients, who were referred to Iran Special Medical Center, were clinically and electrophysiologically evaluated in this study. DNA was extracted from the patients' blood samples. Next, polymerase chain reaction (PCR) assay was carried out, and the products were sequenced and analyzed in FinchTV software.

RESULTS

None of the target mutations were found in this study. Sequencing of gene showed SNP rs1025476 (g.57975C>T) in 21 (87.5%) patients, including 7 homozygous and 14 heterozygous individuals.

CONCLUSION

Despite the high rate of mutations in some populations, it seems that they are very rare in Iranian CMT4D patients. Regarding the association of SNP rs1025476 with CMT4D, further assessments are needed to reach a better understanding of genetic markers and their genetic features and to propose better diagnostic and treatment plans for the Iranian population.