Clinical features and genetic testing of a child with hepatic failure syndrome type 2.
10.3760/cma.j.cn511374-20200718-00526
- Author:
Tao JIANG
1
;
Wenxian OUYANG
;
Yanfang TAN
;
Lian TANG
;
Hui ZHANG
;
Shuangjie LI
Author Information
1. Center of Hepatopathy, Hunan Children's Hospital, Changsha, Hunan 410007, China. lesjie62@vip.sina.com.
- Publication Type:Journal Article
- MeSH:
Child;
Exons/genetics*;
Genetic Testing;
High-Throughput Nucleotide Sequencing;
Humans;
Liver Failure;
Male;
Mutation
- From:
Chinese Journal of Medical Genetics
2022;39(2):181-184
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a child with infantile liver failure syndrome type 2 (ILFS type 2).
METHODS:Clinical features of the child were analyzed. Next generation sequencing was also carried out for him.
RESULTS:The child was found to harbor compound heterozygous variants of the NBAS gene, which included a novel nonsense c.2746A>T (p.R916X, 1456) variant in exon 24 and a missense c.3596G>A (p.C1199Y) mutation in exon 31, which has been associated with ILFS type 2. The two variants were respectively inherited from his father and mother.
CONCLUSION:The compound heterozygous variants of c.3596G>A and c.2746A>T of the NBAS gene probably underlay the ILFS type 2 in this child.
