New Term Request: Ataxia with oculomotor apraxia type 4

[vjenkinsFB]

I'd like to request a term for ataxia with oculomotor apraxia type 4. DO has types 1 (DOID:0050754) and 3 (DOID:0060557).

OMIM: https://omim.org/entry/616267

Potential definition: Ataxia-oculomotor apraxia 4 has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13.

Potential parent term: autosomal recessive cerebellar ataxia

Synonyms: ataxia-oculomotor apraxia 4, AOA4

ClinVar search term: PNKP AND ( ( ("clinsig pathogenic"[Properties] or "clinsig pathogenic low penetrance"[Properties] or "clinsig established risk allele"[Properties]) OR ("clinsig likely pathogenic"[Properties] or "clinsig likely pathogenic low penetrance"[Properties] or "clinsig likely risk allele"[Properties]) OR ("clinsig vus"[Properties] or "clinsig uncertain risk allele"[Properties]) OR ("clinsig has conflicts"[Properties]) ) AND (1[VARLEN]:1000[VARLEN] AND "single gene"[Properties]))

MedGen page(s) pointed to by the above: https://www.ncbi.nlm.nih.gov/medgen/C4225397/ Ataxia - oculomotor apraxia type 4; https://www.ncbi.nlm.nih.gov/medgen/C3150667/ Microcephaly, seizures, and developmental delay; https://www.ncbi.nlm.nih.gov/medgen/C3150988/ Developmental and epileptic encephalopathy, 12 despite this being linked to the gene PLCB1, not sure why

MalaCards page: https://www.malacards.org/card/ataxia_oculomotor_apraxia_4

HGNC entry for gene: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9154

Citations other than those in the OMIM entry:

• https://pubmed.ncbi.nlm.nih.gov/31061747/ Rudenskaya GE, Marakhonov AV, Shchagina OA, et al. Ataxia with Oculomotor Apraxia Type 4 with PNKP Common "Portuguese" and Novel Mutations in Two Belarusian Families. J Pediatr Genet. 2019;8(2):58-62. doi:10.1055/s-0039-1684008
• https://pubmed.ncbi.nlm.nih.gov/37061005/ Islam A, Chakraborty A, Gambardella S, et al. Functional analysis of a conserved site mutation in the DNA end processing enzyme PNKP leading to ataxia with oculomotor apraxia type 4 in humans. J Biol Chem. 2023;299(5):104714. doi:10.1016/j.jbc.2023.104714
• https://pubmed.ncbi.nlm.nih.gov/28552035/ Schiess N, Zee DS, Siddiqui KA, Szolics M, El-Hattab AW. Novel PNKP mutation in siblings with ataxia-oculomotor apraxia type 4. J Neurogenet. 2017;31(1-2):23-25. doi:10.1080/01677063.2017.1322079

FlyBase paper(s) to curate with this term: FBrf0257088

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

[lschriml]

Thank you Victoria, It has been added. Cheers, Lynn