Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy-Walker malformation.

Alice TraversaSilvia BernardoAlessandro PaiardiniAgnese GiovannettiEnrica MarchionniMaria Luce GenovesiDaniele GuadagnoloBarbara TorresStefano PaolacciLaura BernardiniTommaso MazzaMassimo CarellaViviana CaputoAntonio Pizzuti

Published in: Molecular genetics & genomic medicine (2019)

The present case confirmed WES as a reliable tool for the prenatal identification of the molecular bases of early-detected CNS malformations.

Keyphrases

pregnant women
magnetic resonance imaging
early onset
blood brain barrier
single molecule
ultrasound guided
computed tomography
bioinformatics analysis