PAFAH1B1基因突变致光滑脑二例

PAFAH1B1 gene mutation in lissencephaly:two cases report

目的探讨PAFAH1B1基因突变致光滑脑(LIS)的临床表型及与基因型的相关性。方法分析2例PAFAH1B1基因突变致LIS患儿的临床资料,并复习PAFAH1B1基因相关文献。结果 2例患儿均以癫痫发作入院,其中女性患儿为50d龄、男性患儿为6个月龄。血常规、肝肾功能电解质、甲状腺功能等实验室检查均无异常,脑电图检查均有癫痫波样改变,头颅MRI分别提示巨脑回畸形、无脑回-巨脑回畸形。基因检测发现,女性患儿的PAFAH1B1基因存在c.430C>T杂合突变(p.R144X),患儿父母未见该基因位点突变;男性患儿的PAFAH1B1基因存在loss1(EXON:2-11)/44 K缺失突变,其父母未见突变;2例突变位点均未见报道且均为致病性突变。结论 PAFAH1B1基因突变可以导致LIS,常伴有癫痫,头颅影像学表现为巨脑回畸形、无脑回-巨脑回畸形。本研究发现了 2个新的致LIS的PAFAH1B1基因的基因型突变,丰富了 LIS遗传学数据库。

Objective To explore the clinical phenopyte of PAFAH1 B1 gene mutation in lissencephaly(LIS) and its correlation with genotype.Method To retrospectively analyze the clinical data of 2 cases of PAFAH1 B1 gene mutations in children with LIS,and review relevant literature.Results Two children with LIS are a female at age of 50 days and a male at 6 months.Both of them were admitted to hospital with epileptic seizures.There was no obvious abnormality in laboratory examination such as blood routine examination,hepatorenal and thyroid function.Both of their EEG showed epileptic waves and cranial MRI showed lissencephaly.Gene analysis revealed that the female patient’s PAFAH1 B1 gene had a c.430 C>T heterozygous mutation(p.R144 X),and the parents of the patient had no mutation;the male patient’s PAFAH1 B1 gene had a lossl(EXON:2-11)/44 K deletion mutation,and his parents had no mutations.2 cases of mutation sites were not reported and they were all pathogenic mutations.Conclusion Mutations in the PAFAH1 B1 gene can cause lissencephaly,often accompanied by epilepsy and cranial MRI showed lissencephaly.This study discovered two new PAFAH1 B1 genes mutation in LIS,which enriched the LIS genetics database.