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Mutational analysis of the 5′ non-coding region of GJB1 in a Taiwanese cohort with Charcot–Marie–Tooth neuropathy.
- Source :
-
Journal of the Neurological Sciences . Sep2013, Vol. 332 Issue 1/2, p51-55. 5p. - Publication Year :
- 2013
-
Abstract
- Abstract: Mutations in the 5′ non-coding region of GJB1 are rarely reported in patients with Charcot–Marie–Tooth disease (CMT). We therefore aimed to assess the frequency and identities of the GJB1 5′ non-coding region mutations in a cohort of CMT. We analyzed the 5′ non-coding region of GJB1 (including the promoter P2 and exon 1b) in 91 unrelated CMT patients without an identified genetic cause. Two mutations, c.-529T>C, and c.-459C>T, were identified in one patient each. One polymorphism, c.-713G>A, was also identified in 53 patients and 73 of the 100 control subjects. The luciferase reporter assays showed that c.-459C>T significantly reduced the luciferase expression with or without SOX10 activation, whereas c.-529T>C impaired the expression only with SOX10 co-expression. c.-713G>A had no apparent functional effect. Mutations in the 5′ non-coding region of GJB1 account for 0.8% (2 of 251) of CMT and 2.2% (2 of 91) of genetically unassigned CMT in a Taiwanese cohort. As previously demonstrated, c.-459C>T and c.-529T>C may cause CMT through compromising GJB1 expression whereas c.-713G>A is a benign variant. This study highlights the pathogenic role of the GJB1 5′ non-coding region mutations in CMT, and suggests that their identification should be considered for CMT patients without commonly observed mutations. [Copyright &y& Elsevier]
Details
- Language :
- English
- ISSN :
- 0022510X
- Volume :
- 332
- Issue :
- 1/2
- Database :
- Academic Search Index
- Journal :
- Journal of the Neurological Sciences
- Publication Type :
- Academic Journal
- Accession number :
- 89732965
- Full Text :
- https://doi.org/10.1016/j.jns.2013.06.011