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MECR

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# SNPs6
 Max MagnitudeChromosome positionSummary
rs1057519286029,196,234
rs1057519287029,216,612
rs1273800729,195,193
rs145192716029,200,574
rs759218713029,196,235
rs762913101029,202,004

The MECR gene located on chromosome 1 encodes the mitochondrial trans-2-enoyl-CoA reductase enzyme, a key protein in mitochondrial fatty acid synthesis (mtFAS).

Recessively inherited mutations in the MECR gene may lead to MEPAN Syndrome, a form of childhood-onset dystonia, including optic atrophy and basal ganglia abnormalities. [PMID 27817865OA-icon.png]

Unfortunately, none of the DNA chips used by the major direct-to-consumer genomics companies currently return results for the pathogenic MECR gene mutations. Until that changes, only sequencing based approaches (such as whole exome or genome) will reveal carriers of one or more of the known pathogenic variants.

While there is not a patient-specific group for MEPAN/MECR mutations yet, a concerned parent (Danny Miller) is working to put one together. In the US, the leading researcher on MECR/MEPAN is Dr. Susan Hayflick at Oregon Health & Science University. The contact info for her lab is below along with Allison Gregory, the genetic counselor in the Hayflick Lab.

Allison Gregory, MS, CGC
Genetic Counselor
Hayflick Laboratory
Molecular & Medical Genetics
Oregon Health & Science University
3181 SW Sam Jackson Park Rd. L103
Portland, OR 97239 USA

There are a couple of genetic testing labs that include MECR in specific genetic screenings, but MECR is still relatively new as far as known pathogenicity, and it’s not usually included in generic whole exome tests.

Fulgent
Single gene test - CPT code 81479x2
https://www.fulgentgenetics.com/mecr

MNG Labs
- Spastic Paraplegia - test code NGS337
- Comprehensive Dystonia - test codes NGS358 and NGS409 (includes HTT repeat expansion analysis)
- Comprehensive Neuropathies - test code NGS445
https://mnglabs.com/mng-omim/testCatalog/search#