X‐Linked Bilateral Polymicrogyria With Epilepsy and Intellectual Disability Associated With a Novel KIF4A Variant

Author:

Laflamme Naomi1,Triassi Valérie12,Martineau Laurence3,Toffa Dènahin Hinnoutondji14ORCID,Létourneau‐Guillon Laurent5,Laplante Annie1,Cossette Patrick145,Samarut Éric14,Tétreault Martine14,Nguyen Dang Khoa146

Affiliation:

1. Centre de Recherche du Centre Hospitalier de l'Université de Montréal (CRCHUM) Montreal Quebec Canada

2. Bioinformatics Program, Department of Biochemistry and Molecular Medicine Université de Montréal Montréal Quebec Canada

3. Neurology Division Centre Hospitalier Universitaire de Québec, Université Laval Quebec City Quebec Canada

4. Department of Neuroscience Université de Montréal Montreal Quebec Canada

5. Division of Radiology Centre Hospitalier de l'Université de Montréal (CHUM) Montreal Quebec Canada

6. Neurology Division Centre Hospitalier de l'Université de Montréal (CHUM) Montreal Quebec Canada

Abstract

ABSTRACTWe studied three brothers and a maternal half‐brother featuring global developmental delay, mild to moderate intellectual disability, epilepsy, microcephaly, and strabismus. All had bilateral perisylvian and perirolandic polymicrogyria, while some also had malformations of the hippocampus (malrotation and dysplasia), cerebellum (heterotopias and asymmetric aplasia), corpus callosum dysgenesis, and brainstem asymmetric dysplasia. Exome sequencing showed that all four patients had a novel variant (c.1597C>T:p.Leu533Phe) on the KIF4A gene on chromosome X. We discuss how this variant is possibly pathogenic and could explain the reported phenotype.

Funder

Savoy Foundation

Fonds de Recherche du Québec - Santé

Fondation de l'Association des radiologistes du Québec

Publisher

Wiley

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