Abstract: PCDH19 gene mutations mainly cause epilepsy confined to women with mental retardation.Because of its special inheritance，it mainly leads to female heterozygosity.At present，more than 200 cases of PCDH19 mutation female cases have been reported，and their clinical characteristics have been more clear.There are still few reports of male patients with PCDH19 gene mutation.The clinical features of its onset are not yet clear，and further research is urgently needed.This article reports the clinical data of a case of male Mosaicism with pathogenic mutation of PCDH19 gene.The results of genetic testing suggest that PCDH19 c.1078 （exon 1） G> A （p.Glu360Lys） mutation is a new mutation and broadens the mutation of PCDH19 gene.Pathogenic gene phenotype profile.After literature search and analysis，the clinical data of 13 cases of male Mosaicism with pathogenic mutation of PCDH19 gene in males with sex chromosome karyotype of XY type reported in the past.The incidence characteristics of 14 male chimeras were：（1）all had seizures，100% had cluster seizures，78.6% had heat sensitivity，the onset age was 5 to 31 months，and the median age was 9 months.The first seizure was usually a generalized seizure.Tonic clonic seizures were common.Focal seizures are common，with a status epilepticus in 35.7% of the course of the disease.（2）Most of the intelligence is normal before the seizure，and about 76.9% after the seizure have intellectual disability and mental symptoms.Provide a theoretical basis for clinical diagnosis and treatment of children with PCDH19 gene mutation.

Key words: PCDH19 gene, Male, Chimera, Epilepsy, Autism

摘要： PCDH19基因突变主要引起限于女性的癫痫伴智力低下。因其特殊的遗传方式主要导致女性杂合子发病。目前PCDH19突变女性病例报道已达200余例，其临床特点已较明确。目前PCDH19基因突变男性患者报道仍然较少。其发病临床特点尚不十分清楚，亟待更深入的研究。本文报道1例PCDH19基因致病性突变男性嵌合体患儿的临床资料，基因检测结果提示PCDH19 c.1078（exon 1）G>A（p.Glu360Lys）变异，为新生突变，拓宽了PCDH19基因突变致病的基因表型谱。经过文献检索分析既往报道的13例性染色体核型为XY型的男性PCDH19基因致病性突变男性嵌合体患儿临床资料。14例男性嵌合体患儿（包含本文病例）发病特点为：（1）均有癫痫发作，100%呈丛集性发作，78.6%（11/14）具有热敏感性，发作起始年龄为5~31个月，中位年龄9个月，首次发作多为全面性发作，强直阵挛发作常见，后期以局灶性发作常见，35.7%（5/14）病程中存在癫痫持续状态；（2）癫痫发作前多数智力正常，癫痫发作后76.9%（10/13）存在智力障碍和精神症状。本文为临床诊治PCDH19基因突变患儿提供一定的理论依据。

关键词: PCDH19基因, 男性, 嵌合体, 癫痫, 孤独症