The clinical manifestations and genetic analysis of lisencephaly in children

VernacularTitle:无脑回畸形患儿的临床表现及基因分析
Author: Min ZHAO ; Fang LIU
Keywords: lissencelphaly; PAFAH1B1 gene; gene detection
From: Journal of Clinical Pediatrics 2017;35(7):519-521
CountryChina
Language:Chinese
Abstract: Objective To explore clinical characteristics and pathogenic gene of lisencephaly. Methods The clinical manifestation, laboratory examination and gene detection results of lisencephaly in two children were analyzed retrospectively, and relevant literature were reviewed. Results Two male children with lisencephaly are at ages of 7 months, and 3 years and 4 months respectively. Both of them were admitted to hospital due to epilepsy and loss of consciousness at the time of attack. There was no obvious abnormality in laboratory examination. Both of their EEG indicated epileptic wave. Cranial MRI showed lissencelphaly. Gene analysis showed that there was a heterozygous mutation of IVS3-1G>A in PAFAH1B1 gene in a child, which resulted in the deletion of exon 4 in mRNA level by functional analysis. No mutations were found in the parents of the child. The other one had c.274A>G mutation (p.K92E) in PAFAH1B1 gene, which has not been reported before, and his parents were normal. Conclusion Patients with lissencelphaly may combine with epilepsy, and the PAFAH1B1 gene mutation is the common cause.