Clinical and genetic analysis of one patient with familial glucocorticoid deficiency type 4 caused by NNT gene variation
10.3760/cma.j.cn311282-20230302-00096
- VernacularTitle:一例NNT基因变异致家族性糖皮质激素缺乏症4型的临床与遗传学分析
- Author:
Junlin WANG
1
;
Mingying HAN
;
Changjuan ZHAO
;
Shuli WANG
;
Xiuying QIAO
;
Yang GUO
;
Meihong SUN
Author Information
1. 临沂市人民医院儿科 276000
- Keywords:
Familial glucocorticoid deficiency;
Whole-exome sequencing;
NNT gene;
Genetic variation
- From:
Chinese Journal of Endocrinology and Metabolism
2024;40(7):580-585
- CountryChina
- Language:Chinese
-
Abstract:
Familial glucocorticoid deficiency type 4(FGD4) is a rare autosomal recessive disorder caused by mutations in the nicotinamide nucleotide transhydrogenase(NNT) gene. The article presented clinical data, laboratory results, and genetic mutation findings of a child with FGD4. Additionally, a retrospective analysis of the clinical data of FGD4 patients reported domestically and internationally was conducted, summarizing the types of gene mutations and clinical characteristics. This case identifies novel mutation sites in the NNT gene, providing a basis for the early diagnosis and treatment of FGD4 patients.
