X‐Linked Bilateral Polymicrogyria With Epilepsy and Intellectual Disability Associated With a Novel <scp><i>KIF4A</i></scp> Variant
We 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.
Authors
- Valérie Triassi (ORCID: https://orcid.org/0000-0003-1208-8196)
- Éric Samarut (ORCID: https://orcid.org/0000-0001-7818-2009)
- Martine Tétreault (ORCID: https://orcid.org/0000-0001-7124-5919)
- Laurence Martineau
- Patrick Cossette
- Laurent Létourneau‐Guillon (ORCID: https://orcid.org/0000-0002-6325-7538)
- Dènahin Hinnoutondji Toffa (ORCID: https://orcid.org/0000-0002-7446-0312)
- Annie Laplante
- Dang Khoa Nguyen (ORCID: https://orcid.org/0000-0003-1550-4423)
- N Laflamme
Institutions
- Centre hospitalier universitaire de Québec (CA)
- Centre Hospitalier de l’Université de Montréal (CA)
- Université Laval (CA)
- Université de Montréal (CA)
Publication Details
- Journal
- American Journal of Medical Genetics Part A
- Published
- 2024-09-13
- DOI
- https://doi.org/10.1002/ajmg.a.63860
- Citations
- 2
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 1.10
Funders
- Savoy Foundation
- Fondation de l'Association des radiologistes du Québec
- Fonds de Recherche du Québec - Santé