Title of article :
Investigation of Mutations in Exon 14 of SH3TC2 Gene and Exon 7 of NDRG1 Gene in Iranian Charcot-Marie-Tooth Disease Type 4 (CMT4D) Patients
Author/Authors :
Moosavi, Rahmaneh Sadat Science and Research Branch of Islamic Azad University - Islamic Republic of Iran , Jahangir Soltani, Niloofar Department of Medical Biotechnology - National Institute of Genetic Engineering and Biotechnology, Tehran , Houshmand, Massoud Research Center - Knowledge University - Erbil - Kurdistan Region, Iraq
Abstract :
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 NDRG1 gene and
p.R1109X mutation in SH3TC2 gene (responsible for CMT4D and
CMT4C, respectively) and to investigate other possible nucleotide
changes in exon 14 of SH3TC2 gene and exon 7 of NDRG1 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
SH3TC2 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.
Keywords :
SH3TC2 gene , NDRG1 gene , CMT4D , Charcot-Marietooth disease , Iran
Journal title :
Astroparticle Physics