Case report of clinical features of 4H syndrome and analysis of POLR3A gene
10.3760/cma.j.cn101070-20200515-00834
- VernacularTitle:4H综合征患儿1例的临床特点及 POLR3 A基因分析
- Author:
Conglei SONG
1
;
Wenjia TONG
;
Guang′e YANG
;
Bin YANG
Author Information
1. 安徽省儿童医院神经内科，合肥 230051
- Keywords:
4H syndrome;
POLR3 A gene;
Leukodystrophy
- From:
Chinese Journal of Applied Clinical Pediatrics
2021;36(20):1582-1584
- CountryChina
- Language:Chinese
-
Abstract:
Clinical data of a case of 4H syndrome admitted to the Department of Neurology, Anhui Children′s Hospital in January 2019 were retrospectively analyzed.The male patient with 2 years and 7 months old had clinical manifestations of motor and mental retardation, unstable gait, and abnormal tooth development.Head magnetic resonance imaging revealed abnormal brain white matter development.Family-wide exon detection revealed compound heterozygous mutations of the POLR3 A gene, c.3858C>A (exon29) and c. 3226G>A (exon24), which were newly detected pathogenic mutations.It is suggested that 4H syndrome should be considered in children with early developmental retardation, abnormal tooth development, and abnormal white matter.
