Intellectual disability, macrocephaly and seizures caused by de novo variants in PAK1: a case report
10.3760/cma.j.cn101070-20220916-01082
- VernacularTitle:PAK1基因新生突变相关智力发育障碍伴大头畸形-癫痫发作1例
- Author:
Zimeng GUO
1
;
Rong ZHAO
;
Taoyun JI
Author Information
1. 北京大学第一医院儿科，北京 100034
- Keywords:
PAK1 gene;
Intellectual disability;
Macrocephaly;
Epilepsy
- From:
Chinese Journal of Applied Clinical Pediatrics
2023;38(7):546-549
- CountryChina
- Language:Chinese
-
Abstract:
The clinical data of a child with intellectual disability, macrocephaly and seizures associated with de novo variants in the PAK1 gene who was treated in the Department of Pediatrics, Peking University First Hospital in March 2022 were retrospectively analyzed.Meanwhile, literature review was performed to analyze the pathogenicity and mutation characteristics of the PAK1 gene.A boy with 4 years and 8 months old presented clinical manifestations of intellectual disability dominated by speech impairment and recurrent epilepsy.The patient had special facial features, including large head circumference, long face and low nose beam.Video electroencephalogram showed slow waves in the bilateral anterior head regions, and sharp wave, spike-slow complex waves and sharp-slow complex waves in the left hemisphere.Head magnetic resonance imaging revealed enlargement of the bilateral cerebral gyri, cerebellum and brainstem, thickening of cortex and corpus callosum, and enrichment of white matter.A de novo heterozygous mutation c. 361C>A(p.Pro121Thr ) was found in exon 4 of PAK1 (NM_001128620). This article for the first time reported a case of intellectual disability, macrocephaly and seizures caused by the de novo variants in the PAK1 gene in China.The pathogenic gene in this family was identified, which provided the possibility for accurate genetic counseling.
