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NM_014874.3(MFN2):c.280C>T (p.Arg94Trp) AND Charcot-Marie-Tooth disease, type 2A2A

Significance: Pathogenic
ClinVar: RCV000002364

Variant: NM_014874.3(MFN2):c.280C>T (p.Arg94Trp)

Type: Variant
Allele: NM_014874.3(MFN2):c.280C>T (p.Arg94Trp) 17315
Gene:
Type: single nucleotide variant
Location: Chr1: 11992659 - assembly GRCh38
Chr1: 12052716 - assembly GRCh37
References: dbSNP: 119103263
OMIM: 608507.0009
UniProtKB: O95140#VAR_029876
Centre for Mendelian Genomics,University Medical Centre Ljubljana: CMGVARID00460

Condition

Disease: Charcot-Marie-Tooth disease, type 2A2A

Citations

    In a patient with early-onset Charcot-Marie-Tooth disease-2A2A (CMT2A2A; 609260), Zuchner et al. (2004) identified a heterozygous 280C-T transition in exon 4 of the MFN2 gene, resulting in an arg94-to-trp (R94W) substitution. A different mutation affecting the same codon (R94Q; 608507.0001) was identified in another family.
PMID:15064763
    Zuchner et al. (2006) identified a heterozygous R94W mutation in an African American mother and daughter with hereditary motor and sensory neuropathy with optic atrophy (HMSN6A; 601152). Both patients had early onset of axonal neuropathy, at ages 8 and 3 years, respectively, and late onset of optic atrophy, at ages 50 and 40 years, respectively.
PMID:16437557
    Chung et al. (2006) identified a heterozygous R94W mutation in 2 Korean families with severe early-onset CMT2A2A and no evidence of optic atrophy.
PMID:16835246