Application of Gene Panel in Neonates with Suspected Inherited Metabolic Diseases
10.3870/j.issn.1004-0781.2024.12.014
- VernacularTitle:基因panel在新生儿疑似遗传代谢疾病中的应用
- Author:
Ying WEI
1
;
Zhihui RONG
;
Ling CHEN
Author Information
1. 华中科技大学同济医学院附属同济医院儿科,武汉 430030
- Keywords:
Gene panel;
Genetic metabolic diseases;
Genetic testing;
Neonates;
Early screening
- From:
Herald of Medicine
2024;43(12):1965-1970
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the application of gene panel in neonates with suspected genetic metabolic diseases.Methods The gene panel designed by Tongji Hospital of Tongji Medical College of Huazhong University of Science and Technology was used to screen newborns exhibiting high-risk clinical phenotypes of genetic metabolic diseases from January 2023 to March 2024.Meanwhile,the clinical data were collected and follow-up observations were conducted to analyze the detection rates of pathogenic genes and the correlation between genotype and phenotype of the neonates.Results A total of 53 neonates with high-risk inherited metabolic clinical phenotypes were included in this study,among which the overall positive detection rate for pathogenic genes was 17.0%(9/53).The pathogenic genes detected in this study were chloride channel(CLCN1),dual oxidase 2(DUOX2),gap junction protein beta 2(GJB2),tyrosine-protein phosphatase nonreceptor type 11(PTPN11),sodium channel α subunit(SCN1A),spastic paraplegia gene 11(SPG11),etc.DUOX2 and GJB2 were the most frequently detected,accounting for 33.3%(3/9)and 22.2%(2/9)of positive cases,respectively.A comparative analysis was made between the positive and negative groups of pathogenic genes,and it was found that the prognosis of the positive group was more serious and the number of clinical phenotypes might be more than that of the negative group.In the positive group of pathogenic genes,except for cases 1 and 9,whose clinical phenotypes were temporarily inconsistent with pathogenic genes due to the late onset of related diseases,the pathogenic genes were consistent with clinical phenotypes in the remaining cases.Conclusion The gene panel,characterized by short detection time,low detection cost and minimal technical demands,are suitable for the early screening of neonates with suspected genetic metabolic diseases in developing countries and economically backward areas.
