Contributions of Drosophila melanogaster and Caenorhabditis elegans studies conducted through UDN to identification of pathogenic variants responsible for rare neurological disorders

Model organism studied Human gene of interest Neurological disease or phenotype associated Year reported
D. melanogaster EBF3 Hypotonia, ataxia, delayed development 2017 [62]
D. melanogaster CACNA1A Infantile developmental delay, ataxia 2017 [64]
D. melanogaster IRF2BRL Severe neurodevelopmental regression, hypotonia, ataxia, seizures, abnormal motor behaviors 2018 [65]
D. melanogaster WDR37 Neurooculocardio-genitourinary syndrome 2019 [66]
D. melanogaster, D. rerio BICRA (GLTSCR1) SWI/SNF-related intellectual disability disorder 2020 [67]
D. melanogaster TOMM70 Hypotonia, dystonia, ataxia, white matter abnormalities 2020 [68]
D. melanogaster CDK19 Epileptic encephalopathy, hypotonia, general developmental delay 2020 [69]
D. melanogaster ACOX1 Glial loss (Schwann cell loss) 2020 [70]
D. melanogaster TNPO2 General developmental delay, neurologic deficits 2021 [71]
D. melanogaster, D. rerio GDF11 Craniofacial and vertebral abnormalities, neurological deficits 2021 [72]
D. melanogaster RNF2 (RING2) Intellectual disability, seizures, behavioral abnormalities 2021 [73]
C. elegans NBEA Neurodevelopmental delay, early childhood epilepsy 2021 [74]

The list of D. melanogaster and C. elegans-based studies conducted is shown for rare neurological disorders investigated through the Undiagnosed Disease Network during the phases I and II. The citation for each report is provided along with the year published.

Exp Neurobiol 2022;31:1~16
© Exp Neurobiol