X-linked neurological dysplasia caused by a new mutation of the PAK3 gene in a newborn
10.3760/cma.j.cn101070-20220526-00610
- VernacularTitle:新生儿 PAK3基因新发突变致X连锁神经发育异常1例
- Author:
Chaoqun YE
1
;
Leyang SHI
;
Qingmei DAI
;
Xianhong LI
;
Yan WANG
;
Ding GAO
;
Jun HU
;
Huizhi HUANG
Author Information
1. 安徽医科大学第五临床医学院/安徽省儿童医院新生儿科，合肥 230051
- Keywords:
PAK3 gene;
X-linked neurological dysplasia;
Whole genome sequencing;
Infant, newborn
- From:
Chinese Journal of Applied Clinical Pediatrics
2023;38(12):941-943
- CountryChina
- Language:Chinese
-
Abstract:
The clinical features, examination findings and genetic testing results of a newborn with neurobehavioral developmental abnormality caused by the PAK3 gene mutation in the Department of Neonatology, Anhui Provincial Children′s Hospital were retrospectively analyzed in November 11, 2021.The male 9-day-old newborn presented with the difficult-to-wean for 9 days after birth.The child had repeated startle reflexes, decreased muscle tension in the extremities, and partial primitive reflexes.Amplitude-integrated electroencephalogram (aEEG) showed the lower and upper boundary voltage of 10 μV and 40 μV, respectively.Obvious mature sleep-wake cycles were not found, and 2 electric seizures were recorded.The aEEG suggested the moderate-to-severe abnormal aEEG.Magnetic resonance imaging showed that the corpus callosum was slightly thinner.The family-centered diagnostic exosome sequencing showed a missense mutation of the PAK3 gene[c.1327 (exon18) G>A, p.G443R], which has not been previously reported at home and abroad.This case enriched the clinical phenotype of the PAK3 gene mutation and suggested the potential value of whole genome sequencing in clinical diagnosis and genetic guidance.
