New Term Request: Neurodevelopmental disorder with microcephaly and spastic paraplegia

[vjenkinsFB]

I'd like to request a term for neurodevelopmental disorder with microcephaly and spastic paraplegia.

OMIM: https://www.omim.org/entry/616281

Potential definition: Neurodevelopmental disorder with microcephaly and spastic paraplegia has_material_basis_in homozygous or compound heterozygous mutation in the GPT2 gene on chromosome 16q11.

Potential parent term: amino acid metabolic disorder

Synonyms: mental retardation, autosomal recessive 49; glutamate pyruvate transaminase 2 deficiency; GPT2 deficiency ClinVar search term: GPT2[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/C4225388 glutamate pyruvate transaminase 2 deficiency

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

HGNC entry for gene: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18062

Citations other than those in the OMIM entry:

• https://pubmed.ncbi.nlm.nih.gov/38416643/ Martelli F, Lin J, Mele S, et al. Identifying potential dietary treatments for inherited metabolic disorders using Drosophila nutrigenomics. Cell Rep. 2024;43(3):113861. doi:10.1016/j.celrep.2024.113861
• https://pubmed.ncbi.nlm.nih.gov/35908744/ Baytas O, Kauer JA, Morrow EM. Loss of mitochondrial enzyme GPT2 causes early neurodegeneration in locus coeruleus. Neurobiol Dis. 2022;173:105831. doi:10.1016/j.nbd.2022.105831
• https://pubmed.ncbi.nlm.nih.gov/33501685/ Ruaud L, Keren B, Debs R, Mignot C, Mochel F. Demyelinating motor neuropathy associated with a homozygous GPT2 pathogenic variant. Muscle Nerve. 2021;63(5):E41-E44. doi:10.1002/mus.27183
• https://pubmed.ncbi.nlm.nih.gov/34519342/ Baytas O, Davidson SM, DeBerardinis RJ, Morrow EM. Mitochondrial enzyme GPT2 regulates metabolic mechanisms required for neuron growth and motor function in vivo. Hum Mol Genet. 2022;31(4):587-603. doi:10.1093/hmg/ddab269

FlyBase paper(s) to curate with this term: FBrf0259145

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

[csbjohnson]

Hi @vjenkinsFB,

Thank you for your request . We'll review your new term request for Neurodevelopmental disorder with microcephaly and spastic paraplegia.

Best, Claudia Marie Sánchez-Beato Johnson

[allenbaron]

This disease will be included in the next release as 'neurodevelopmental disorder with spastic paraplegia and microcephaly' (DOID:0070542).