Familial dominant epilepsy and mild pachygyria associated with a constitutional LIS1 mutation

American Journal of Medical Genetics. Part a
Dalila De VitaRenzo Guerrini

Abstract

We describe a mother and son with focal epilepsy, mild cognitive impairment, and pachygyria, which was parieto-occipital in the mother and with remarkable posterior greater than anterior severity in the son. Overall clinical manifestations, although overlapping in type, were likewise slightly more severe in the son. Using targeted resequencing through a gene panel for malformations of cortical development, we identified the c.655 T > A [p.(Trp219Arg)] novel missense variant in the LIS1 gene, segregating in the proband and in his mother. Western Blot analysis, qPCR gene expression and RT-PCR disclosed no significant differences between proband, his parents, and controls. Epilepsy and mild cognitive impairment can be the only clinical presentation of constitutional LIS1 mutations, which can therefore be inherited if the associated phenotype implies limited or no reproductive disadvantage. Parents of patients harboring LIS1 mutations should be assessed for their mutation carrier status.

References

Sep 1, 1996·Journal of Lipid Mediators and Cell Signalling·M HattoriK Inoue
Sep 26, 2000·Human Molecular Genetics·M CaspiO Reiner
Aug 12, 2009·Archives of Neurology·Yoann SaillourNadia Bahi-Buisson
Sep 18, 2015·Nature Protocols·Hui Yang, Kai Wang
Aug 19, 2016·Nature·Monkol LekUNKNOWN Exome Aggregation Consortium
Apr 20, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Nataliya Di DonatoWilliam B Dobyns

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