New Term Request: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities ~OR~ MEPAN syndrome

[vjenkinsFB]

I'd like to request a term for dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, sometimes called MEPAN syndrome.

OMIM: https://www.omim.org/entry/617282

Potential definition: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities has_material_basis_in homozygous or compound heterozygous mutation in the MECR gene on chromosome 1p35.

Potential parent term: syndrome

Synonyms: MEPAN syndrome, Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration, MECR-related neurologic disorder, DYTOABG

ClinVar search term: mecr[gene] AND (1[VARLEN]:1000[VARLEN] AND "single gene"[Properties])

MedGen page(s) pointed to by the above: https://www.ncbi.nlm.nih.gov/medgen/C4310634/ Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities

Gene Reviews: https://www.ncbi.nlm.nih.gov/books/NBK540959/ MECR-Related Neurologic Disorder

MalaCards page: https://www.malacards.org/card/dystonia_childhood_onset_with_optic_atrophy_and_basal_ganglia_abnormalities

HGNC entry for gene: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/19691

Patient advocacy: https://www.mepan.org/ MEPAN Foundation

Citations other than those in the OMIM entry:

• https://pubmed.ncbi.nlm.nih.gov/37734847/ Fiorini C, Degiorgi A, Cascavilla ML, Tropeano CV, La Morgia C, Battista M, Ormanbekova D, Palombo F, Carbonelli M, Bandello F, Carelli V, Maresca A, Barboni P, Baruffini E, Caporali L. Recessive MECR pathogenic variants cause an LHON-like optic neuropathy. J Med Genet. 2023 Sep 21:jmg-2023-109340. doi: 10.1136/jmg-2023-109340. Epub ahead of print. PMID: 37734847.
• https://pubmed.ncbi.nlm.nih.gov/37653044/ Dutta D, Kanca O, Byeon SK, Marcogliese PC, Zuo Z, Shridharan RV, Park JH; Undiagnosed Diseases Network; Lin G, Ge M, Heimer G, Kohler JN, Wheeler MT, Kaipparettu BA, Pandey A, Bellen HJ. A defect in mitochondrial fatty acid synthesis impairs iron metabolism and causes elevated ceramide levels. Nat Metab. 2023 Sep;5(9):1595-1614. doi: 10.1038/s42255-023-00873-0. Epub 2023 Aug 31. PMID: 37653044.
• https://pubmed.ncbi.nlm.nih.gov/36262091/ Gupta PR, Gospe SM , III. Ophthalmic manifestations of MEPAN syndrome. Ophthalmic Genet. 2023 Oct;44(5):469-474. doi: 10.1080/13816810.2022.2135112. Epub 2022 Oct 19. PMID: 36262091.

FlyBase paper(s) to curate with this term: FBrf0257649 My contact info: vjenkins@morgan.harvard.edu (FlyBase), 0000-0002-1567-7626. Thank you!

[lschriml]

Thank you Victoria !!

[lschriml]

Apologies for the delay Victoria. This term has been added to the DO. It will be available in this week's release. Cheers, Lynn