NSRP1 mutations cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy
A new study published in Genetics in medicine identified bi-allelic loss-of-function variants in NSRP1 (a ubiquitously expressed splicing regulator not known to underlie a Mendelian disorder), within 6 individuals (from 3 unrelated families) who express developmental delay, epilepsy, variable microcephaly (Z-scores -0.95 to -5.60), hypotonia, and spastic cerebral palsy. Histopathological and molecular analysis establish NSRP1 as a gene for a severe autosomal recessive neurodevelopmental disease trait characterized by developmental delay, epilepsy, microcephaly, and spastic cerebral palsy.
- Genet Med . 2021 Dec;23(12):2455-2460