NM_014874.3(MFN2):c.280C>T (p.Arg94Trp) AND Charcot-Marie-Tooth disease, type 2A2A
| Significance: | Pathogenic |
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| ClinVar: | RCV000002364 |
Variant: NM_014874.3(MFN2):c.280C>T (p.Arg94Trp) |
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| Type: | Variant |
Allele: NM_014874.3(MFN2):c.280C>T (p.Arg94Trp) 17315 |
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| Gene: | MFN2 |
| Type: | single nucleotide variant |
| Location: |
Chr1: 12052716
- assembly
GRCh37 Chr1: 11992659 - assembly GRCh38 |
| References: | dbSNP:
119103263 OMIM: 608507.0009 UniProtKB: O95140#VAR_029876 |
Condition |
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| Disease: | Charcot-Marie-Tooth disease, type 2A2A |
Citations |
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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 |
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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 |
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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 |
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