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Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy and periventricular calcifications

2022-04-06

Abstract excerpt

PPFIBP1 encodes for the liprin-β1 protein which has been shown to play a role in neuronal outgrowth and synapse formation in Drosophila melanogaster . By exome sequencing, we detected nine ultra-rare homozygous loss-of-function variants in 14 individuals from 10 unrelated families. The individuals presented with moderate to profound developmental delay, often refractory early-onset epilepsy and progressive microce...

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Literature Corpus work: 6727b770-edd9-54ec-8254-75f4a820b6ad
DOI: 10.1101/2022.04.04.22273309

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Bi-allelic loss-of-function variants in <i>PPFIBP1</i> cause a neurodevelopmental disorder with microcephaly, epilepsy and periventricular calcifications

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