[A family study of the compound heterozygous mutation of the UGT1A1 gene causing Crigler-Najjar syndrome type II].
Zhonghua Gan Zang Bing Za Zhi
; 31(2): 168-173, 2023 Feb 20.
Article
en Zh
| MEDLINE
| ID: mdl-37137832
ABSTRACT
Objective:
To investigate the family gene features in Crigler-Najjar syndrome (CNS) type II.Methods:
The UGT1A1 gene and related bilirubin metabolism genes were comprehensively analysed in a CNS-II family (3 CNS-II, 1 Gilbert syndrome, and 8 normal subjects). The genetics basis of CNS-II were investigated from the perspective of family analysis.Results:
In three cases, compound heterozygous mutations at three sites of the UGT1A1 gene (c.-3279T > G, c.211G > A and c.1456T > G) caused CNS-II. Gilbert syndrome and CNS-II were not significantly associated with distribution or diversity loci.Conclusion:
The compound heterozygous pathogenic mutations (c.-3279T > G, c.211G > A, and c.1456T > G) at three loci of the UGT1A1 gene may be the feature of the newly discovered CNS-II family genes based on the CNS-II family study.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Síndrome de Crigler-Najjar
/
Enfermedad de Gilbert
Límite:
Humans
Idioma:
Zh
Revista:
Zhonghua Gan Zang Bing Za Zhi
Asunto de la revista:
GASTROENTEROLOGIA
Año:
2023
Tipo del documento:
Article
País de afiliación:
China