SFPQ (Splicing factor proline- and glutamine-rich) is a DNA and RNA binding protein involved in transcription, pre-mRNA splicing, and DNA damage repair and it has been previously implicated in neurodegenerative disorders. A homozygous p.Ser660Asn variant in SFPQ was identified through whole exome sequencing (WES) in an Italian woman presented a complex neurological phenotype with intellectual disability, peripheral neuropathy, bradykinesia, extrapyramidal rigidity and rest (heads) tremor and neuroradiological anomalies including thin dysplastic corpus callosum, hypomyelination and hypointensity of the globus pallidus and of the mesencephalic substantia nigra (resembling neurodegeneration with brain iron accumulation; NBIA). Using a zebrafish SFPQ genetic model we have showed that a rescue with this SFPQS660N mutant revealed robust defects in the developing central nervous system (CNS) of the embryos, including abnormal branching of the motor axons innervating body muscles and misfolding of the posterior brain neuroepithelium. The defects hereby identified in the model organism indicate a potential contribution of the homozygous SFPQ p.Ser660Asn variant in some of the patient's neurodegenerative features, including the clinical parkinsonism and the NBIA-like pattern on brain imaging.

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