Analysis of TSC2 gene variant in a neonate with tuberous sclerosis complex.
10.3760/cma.j.cn511374-20211016-00820
- VernacularTitle:一例结节性硬化症新生儿的
TSC2基因变异分析
- Author:
Canyang ZHAN
1
;
Lihua CHEN
Author Information
1. Department of Neonatology, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, Zhejiang 310052, China. chebq@zju.edu.cn.
- Publication Type:Journal Article
- MeSH:
Male;
Infant, Newborn;
Humans;
Tuberous Sclerosis/genetics*;
Family;
Carotenoids;
Heterozygote
- From:
Chinese Journal of Medical Genetics
2022;39(12):1390-1392
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the clinical characteristics and genetic variant in a neonate with tuberous sclerosis complex (TSC).
METHODS:Clinical data of the neonate was collected. Genomic DNA was extracted from peripheral blood samples of the child and his parents and subjected to next-generation sequencing (NGS).
RESULTS:The child was noted to have yellowish hair upon birth. NGS revealed that he has harbored a heterozygous c.3914del (p.P1305Rfs*20) frameshifting variant of the TSC2 gene. The variant has probably caused premature termination of translation, resulting in a truncated protein.
CONCLUSION:Yellowish hair has rarely been described as the first manifestation of TSC. The c.3914del (p.P1305Rfs*20) variant of the TSC2 gene probably underlay the TSC in this patient.
