Phenotype: Charcot-Marie-Tooth disease, type 4C


OMIM: 601596
Inheritance: Autosomal recessive
Classification: Diseases of the nervous system

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SH3TC2 || c.3325C>T

Gene/Locus:    SH3TC2
Dna Change:    c.3325C>T
Protein Change:    p.Arg1109X
Mutation Type:    Substitution
Mutation Effect:    Nonsense
Location:    exon 14
Transcript:    NM_024577.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
SpainGypsyNA20 out of 21 chromosomes225 years agoClaramunt R et al., 2007Claramunt R, Sevilla T, Lupo V, Cuesta A, Millán JM, Vílchez JJ, Palau F, Espinós C, . The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4.. Clin. Genet.. 2007; 71(4):343-9
SpainGypsyNA1/26 carrier rateNAGooding R et al., 2005Gooding R, Colomer J, King R, Angelicheva D, Marns L, Parman Y, Chandler D, Bertranpetit J, Kalaydjieva L, . A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes.. J. Med. Genet.. 2005; 42(12):e69

References

Claramunt R, Sevilla T, Lupo V, Cuesta A, Millán JM, Vílchez JJ, Palau F, Espinós C, The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4.Clin. Genet.. 2007; 71(4):343-9

Gooding R, Colomer J, King R, Angelicheva D, Marns L, Parman Y, Chandler D, Bertranpetit J, Kalaydjieva L, A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes.J. Med. Genet.. 2005; 42(12):e69