Author:
De Angelis Carla,Byrne Alicia B.,Morrow Rebecca,Feng Jinghua,Ha Thuong,Wang Paul,Schreiber Andreas W.,Babic Milena,Taranath Ajay,Manton Nick,King-Smith Sarah L.,Schwarz Quenten,Arts Peer,Scott Hamish S.,Barnett Christopher
Abstract
Abstract
Background
Periventricular nodular heterotopia (PNH) is a malformation of cortical development characterized by nodules of abnormally migrated neurons. The cause of posteriorly placed PNH is not well characterised and we present a case that provides insights into the cause of posterior PNH.
Case presentation
We report a fetus with extensive posterior PNH in association with biallelic variants in LAMC3. LAMC3 mutations have previously been shown to cause polymicrogyria and pachygyria in the occipital cortex, but not PNH. The occipital location of PNH in our case and the proposed function of LAMC3 in cortical development suggest that the identified LAMC3 variants may be causal of PNH in this fetus.
Conclusion
We hypothesise that this finding extends the cortical phenotype associated with LAMC3 and provides valuable insight into genetic cause of posterior PNH.
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Cited by
4 articles.
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