NM_014874.3(MFN2):c.839G>A (p.Arg280His) AND Charcot-Marie-Tooth disease, type 2A2A
| Significance: | Pathogenic |
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| ClinVar: | RCV000002359 |
Variant: NM_014874.3(MFN2):c.839G>A (p.Arg280His) |
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| Type: | Variant |
Allele: NM_014874.3(MFN2):c.839G>A (p.Arg280His) 17310 |
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| Gene: | MFN2 |
| Type: | single nucleotide variant |
| Location: |
Chr1: 12001423
- assembly
GRCh38 Chr1: 12061480 - assembly GRCh37 |
| References: | dbSNP:
28940294 OMIM: 608507.0004 UniProtKB: O95140#VAR_018611 |
Condition |
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| Disease: | Charcot-Marie-Tooth disease, type 2A2A |
Citations |
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In affected members of a family with Charcot-Marie-Tooth disease-2A2A (CMT2A2A; 609260) originally reported by Pericak-Vance et al. (1997), Zuchner et al. (2004) identified a heterozygous 839G-A transition in the MFN2 gene, resulting in an arg280-to-his (R280H) substitution. Age at disease onset ranged from 11 to 35 years. PMID:10732809, PMID:15064763 |
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Chung et al. (2006) reported a large multigenerational Korean family with late-onset CMT2A2A carrying a heterozygous R280H mutation. Onset ranged between 11 and 42 years, and affected individuals had mild muscle weakness and atrophy. Associated but variable features included pain, tremor, dysarthria, extensor plantar responses, and migraine. One patient had sensorineural hearing loss. PMID:16835246 |
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