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.
ABSTRACT
Objective To investigate the expression of p21-activated kinase 1 (PAK1) protein in patients with colorectal carcinoma and evaluate its clinicopathological significance. Methods The expression of PAK1 was detected by the immunohistochemical method (SABC) in 50 cases of colorectal carcinoma and pericancerous normal specimens, and the relationship between the expression of PAK1 protein and clinicopathological parameters was analyzed. Results The positive rate of PAK1 in colorectal carcinoma was significantly higher than that in normal pulmonary tissues (58 % vs 22 %, P <0.01), and the expression of PAK1 protein was significantly correlated to lymph node metastasis (χ2 =8.872, P =0.003) and degree of differentiation (χ2 =6.344, P =0.042), but not to tumor location, size, age and sex (P >0.05). The positive staining of PAK1 protein was mainly located in the cytoplasm of tumor cells. Conclusion Overexpression of PAK1 is closely related with tumor biological behavior and it may play important role in the development of colorectal carcinoma.