New Term Request: Neurodegeneration, childhood-onset, with brain atrophy

[vjenkinsFB]

I'd like to request a term for neurodegeneration, childhood-onset, with brain atrophy.

OMIM: https://omim.org/entry/617672

Potential definition: Neurodegeneration, childhood-onset, with brain atrophy has_material_basis_in heterozygous mutation in the UBTF gene on chromosome 17q21.

Potential parent term: neurodegenerative disease

Synonyms: CONDBA childhood-onset neurodegeneration, with brain atrophy childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder

ClinVar search term: UBTF[gene] , UBTF overlaps lncRNA ATXN7L3-AS1 so can’t filter by single gene variants

MedGen page(s) pointed to by the above: https://www.ncbi.nlm.nih.gov/medgen/C4540086/, calls it childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder

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

HGNC entry for gene: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12511

Citations other than those in the OMIM entry:

• https://pubmed.ncbi.nlm.nih.gov/31931739/ Bastos F, Quinodoz M, Addor MC, et al. Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature. BMC Neurol. 2020;20(1):17. Published 2020 Jan 13. doi:10.1186/s12883-019-1586-x
• https://pubmed.ncbi.nlm.nih.gov/30517966/ Sedláčková L, Laššuthová P, Štěrbová K, et al. UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood. Neuropediatrics. 2019;50(1):57-60. doi:10.1055/s-0038-1676288
• https://pubmed.ncbi.nlm.nih.gov/36106513/ Tinker RJ, Guess T, Rinker DC, et al. A novel, likely pathogenic variant in UBTF-related neurodegeneration with brain atrophy is associated with a severe divergent neurodevelopmental phenotype. Mol Genet Genomic Med. 2022;10(12):e2054. doi:10.1002/mgg3.2054

FlyBase paper(s) to curate with this term: FBrf0238028 Toro et al.

My contact info: vjenkins@morgan.harvard.edu (FlyBase), 0000-0002-1567-7626. Thank you!

[csbjohnson]

Thank you very much for your request @vjenkinsFB. We'll review your term, get back to you soon and update the DO for the next release.

Thank you!

[allenbaron]

This disease will be in the next release. Just a note that only the name created by OMIM appears in the literature to date, so I chose not include the name from Orphanet. If this is an issue or becomes an issue, let me know and I'll be happy to add it as a synonym.