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NM_014874.3(MFN2):c.839G>A (p.Arg280His) AND Charcot-Marie-Tooth disease, type 2A2A

Significance: Pathogenic
ClinVar: RCV000002359

Variant: NM_014874.3(MFN2):c.839G>A (p.Arg280His)

Type: Variant
Allele: NM_014874.3(MFN2):c.839G>A (p.Arg280His) 17310
Gene:
Type: single nucleotide variant
Location: Chr1: 12061480 - assembly GRCh37
Chr1: 12001423 - assembly GRCh38
References: dbSNP: 28940294
OMIM: 608507.0004
UniProtKB: O95140#VAR_018611

Condition

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

Citations

    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
    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