Disease Spectrum and Gene Variation Analysis of Neonatal Inherited Metabolic Diseases in Gansu Region
LIU Fu-rong
WANG Xing
LI Yan-ting
ZHANG Chuan
GUO Yuan-yuan
HUI Ling
HAO Sheng-ju
Abstract：Objective:To retrospectively analyze the disease spectrum,incidence rate and gene variation spectrum of neonatal inherited metabolic diseases in Gansu province,and to explore the genetic characteristics of these diseases.Methods:213 786 cases with the dried blood spots were screened by tandem mass spectrometry from January 2021 to December 2023.The suspected positive children were diagnosed by urine gas chromatography mass spectrometry or(and)high-throughput gene sequencing.The spectrum of disease,incidence and gene variation were analyzed.Results:145 cases were diagnosed in 189 high risk newborns,including 15 kinds of inherited metabolic diseases.The total incidence of inherited metabolic diseases in Gansu was 1/1 474,among which 68.28％ (99 cases)were hyperphenylalanine.A total of 268 mutation sites related to 20 mutation genes were found,such as some hot spot mutations:c.728G＞A,c.611A＞G mutations in PAH gene,c.609G＞A,c.567dupT mutations in MMA CHC gene,and the new variants not reported:c.298G＞T mutation in MMA CHC gene,c.2000A＞G mutation in MUT gene,c.734-7A＞G mutation in MMAA gene.Conclusions:Mass spectrometry combined with gene detection can effectively explore the genetic characteristics of inherited metabolic diseases,which provides data support for follow-up clinical diagnosis and genetic counseling of these diseases.
Keywords：Tandem mass spectrometryGas chromatography-mass spectrometryHigh-throughput nucleotide sequencingGenetic diseasesinborn
Publication Date：2024-09-15
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：6( 378-383 )