Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2020 Spring;14(2):93-100.

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

Rahmaneh Sadat Moosavi  1 , Niloofar Jahangir Sooltani  2 , Massoud Houshmand  3
Affiliations
Case Reports

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

Rahmaneh Sadat Moosavi et al. Iran J Child Neurol. 2020 Spring.

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: CMT4D; Charcot-Marie-tooth disease; Iran; NDRG1 gene; SH3TC2 gene.

PubMed Disclaimer

Figures

Figure 1
Figure 1
(a) Homozygous g.57975C>T variant in exon 14 of SH3TC2 gene and (b) heterozygous g.57975C>T variant of SH3TC2 gene
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

References

    1. Murakami T, Garcia CA, Reiter LT, Lupski JR. Charcot-Marie-Tooth disease and related inherited neuropathies. Medicine. 1996;75(5):233–50. - PubMed
    1. Georgiou D-M, Nicolaou P, Chitayat D, Koutsou P, Babul-Hirji R, Vajsar J, et al. A novel GDAP1 mutation 439delA is associated with autosomal recessive CMT disease. Canadian journal of neurological sciences. 2006;33(3):311–6. - PubMed
    1. Reilly MM. Classification of the hereditary motor and sensory neuropathies. Current opinion in neurology. 2000;13(5):561–4. - PubMed
    1. Ng AA, Logan AM, Schmidt EJ, Robinson FL. The CMT4B disease-causing phosphatases Mtmr2 and Mtmr13 localize to the Schwann cell cytoplasm and endomembrane compartments, where they depend upon each other to achieve wild-type levels of protein expression. Human molecular genetics. 2013;22(8):1493–506. - PMC - PubMed
    1. Scherer SS, Wrabetz L. Molecular mechanisms of inherited demyelinating neuropathies. Glia. 2008;56(14):1578–89. - PMC - PubMed

Publication types

LinkOut - more resources