PPFIBP1 mutations cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications
A new study published in the American Journal of Human Genetics identified ten bi-allelic variants in a gene implied in fly’s neuronal outgrowth and synapse formation. The 16 individuals (from 12 unrelated families) express moderate to profound developmental delay, often refractory early-onset epilepsy, and progressive microcephaly. Further common clinical findings included muscular hyper- and hypotonia, spasticity, failure to thrive and short stature, feeding difficulties, impaired vision, and congenital heart defects. Neuroimaging revealed abnormalities of brain morphology with leukoencephalopathy, ventriculomegaly, cortical abnormalities, and intracranial periventricular calcifications as major features. Worm knock-out suggest a defect in the neuronal presynaptic zone.
- Am J Hum Genet . 2022 Aug 4;109(8):1421-1435