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| Ataxia v2.134 | PTPMT1 |
Sangavi Sivagnanasundram gene: PTPMT1 was added gene: PTPMT1 was added to Ataxia. Sources: Literature Mode of inheritance for gene: PTPMT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTPMT1 were set to 39279645 Phenotypes for gene: PTPMT1 were set to Neurodevelopmental disorder with ataxia and brain abnormalities MONDO:0978300 Review for gene: PTPMT1 was set to GREEN Added comment: Neurodevelopmental disorder with ataxia and brain abnormalities (NEDAXBA) is characterised by developmental delay, microcephaly, facial dysmorphism, epilepsy, spasticity, cerebellar ataxia and nystagmus, sensorineural hearing loss, optic atrophy, and bulbar dysfunction with neonatal/infantile onset. PMID 39279645 reports five individuals from two consanguineous families with biallelic loss-of-function PTPMT1 variants presenting with infantile-onset cerebellar ataxia, developmental delay, microcephaly, epilepsy, sensorineural hearing loss and optic atrophy. Patient fibroblast rescue of mitochondrial fragmentation and a zebrafish ptpmt1 knockout recapitulating mitochondrial dysfunction support pathogenicity. Sources: Literature |
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