부산대학교 도서관

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.