Associated disorders

The MFN2 gene is associated with autosomal dominant and autosomal recessive Charcot-Marie-Tooth disease type 2A2 (MedGen UID: 373098).

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MFN2 is the most common known cause of CMT2, and approximately 20% of cases are attributed to pathogenic variants identified in MFN2.

The gene MFN2 encodes the protein mitofusin 2. Mitofusin 2 is made in many cell and tissue types, including muscles, the spinal cord, and nerves that connect the brain and spinal cord. This protein contributes to the maintenance and proper functioning of mitochondria.

  1. Santel, A, Fuller, MT. Control of mitochondrial morphology by a human mitofusin. J. Cell. Sci. 2001; 114(Pt 5):867-74. PMID: 11181170
  2. Züchner, S, et al. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann. Neurol. 2006; 59(2):276-81. doi: 10.1002/ana.20797. PMID: 16437557
  3. Lawson, VH, et al. Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene. Neurology. 2005; 65(2):197-204. doi: 10.1212/01.wnl.0000168898.76071.70. PMID: 16043786
  4. Pich, S, et al. The Charcot-Marie-Tooth type 2A gene product, Mfn2, up-regulates fuel oxidation through expression of OXPHOS system. Hum. Mol. Genet. 2005; 14(11):1405-15. doi: 10.1093/hmg/ddi149. PMID: 15829499
  5. Del, Bo, R, et al. Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction. Neurology. 2008; 71(24):1959-66. doi: 10.1212/01.wnl.0000327095.32005.a4. PMID: 18946002
  6. Chung, KW, et al. Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. Brain. 2006; 129(Pt 8):2103-18. doi: 10.1093/brain/awl174. PMID: 16835246
  7. Verhoeven, K, et al. MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain. 2006; 129(Pt 8):2093-102. doi: 10.1093/brain/awl126. PMID: 16714318
  8. Bird, TD. Charcot-Marie-Tooth Neuropathy Type 2. 1998 Sep 24. In: Pagon, RA, et al, editors. GeneReviews (Internet). University of Washington, Seattle; Available from: PMID: 20301462

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
MFN2 NM_014874.3