Tokyo Women's Medical University Journal
Online ISSN : 2432-6186
Case Report
A Novel PAFAH1B1 Splicing Variant Identified in a Patient with Classical Lissencephaly
Tomoe YanagishitaKaoru EtoKeiko Yamamoto-ShimojimaTaichi ImaizumiSatoru NagataToshiyuki Yamamoto
Author information
JOURNAL OPEN ACCESS

2020 Volume 4 Pages 85-89

Details
Abstract

Lissencephaly is a severe brain malformation associated with abnormal formation of cerebral sulci. Until now, many genes related to lissencephaly have been identified. Among them, classical lissencephaly has been often related to the platelet activating factor acetylhydrolase 1B regulatory subunit 1 gene (PAFAH1B1). We identified a novel PAFAH1B1 splicing variant (NM_000430.3:c.118-2A>G) in a female patient with classical lissencephaly manifesting as developmental delay, growth failure, and epilepsy. This variant was not detected in her parents, indicating de novo occurrence of the variant in the patient. To confirm whether this variant is in fact related to splicing error, RNA expression was analyzed. As suspected, an abnormal short band excluding exon 4 was additionally detected. This evidence confirmed that the novel variant is definitely pathogenic to cause lissencephaly in the patient.

Content from these authors
© 2020 Society of Tokyo Women's Medical University

This is an open access article distributed under the terms of Creative Commons Attribution License (CC BY), which permits unrestricted use, distribution, and reproduction in any medium, provided the original source is properly credited.
https://creativecommons.org/licenses/by/4.0/deed.ja
Previous article Next article
feedback
Top