Case report of Dentici-Novelli neurodevelopmental syndrome caused by a novel mutation in the ZNF526 gene and literature review
10.3760/cma.j.cn101070-20231220-00436
- VernacularTitle:ZNF526基因新发突变致Dentici-Novelli神经发育综合征1例并文献复习
- Author:
Tiantian ZHANG
1
;
Xiubo DU
;
Lianchao ZHU
;
Huawei LI
;
Hong ZHENG
;
Bingxiang MA
;
Xilong DU
;
Taisong LI
Author Information
1. 河南中医药大学第一附属医院儿科医院，郑州 450000
- Keywords:
ZNF526 gene;
Dentici-Novelli neurodevelopmental syndrome;
Neurodevelopmental disorder;
Whole exome sequencing
- From:
Chinese Journal of Applied Clinical Pediatrics
2024;39(8):613-616
- CountryChina
- Language:Chinese
-
Abstract:
This paper reports the clinical characteristics and ZNF526 gene mutation in a child with Dentici-Novelli neurodevelopmental syndrome, who was admitted to the Department of Pediatrics at the First Affiliated Hospital of Henan University of Traditional Chinese Medicine in June 2021, and reviews the relevant literature.The male child, 5 years and 1 month old, presented with distinctive facial features, intellectual and motor retardation, language development delays, scattered Mongolian spots on the back and buttocks, brain tissue involvement, visual impairment, and epilepsy.The whole-exome sequencing of the family revealed that the child suffered compound heterozygous mutations, c.1430G>T and c. 475C>T, in the ZNF526 gene.At present, 7 mutation sites in the ZNF526 gene have been reported globally to be associated with neurodevelopmental disorders, and the 2 mutations in this case have not been reported in the literature, broadening the phenotype and mutation spectrum of this disease.
