[Newborn screening and variant analysis for methionine adenosyltransferase I/III deficiency].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(5): 527-531, 2020 May 10.
Article
em Zh
| MEDLINE
| ID: mdl-32335878
ABSTRACT
OBJECTIVE:
To summarize newborn screening for methionine adenosyltransferase I/III (MAT I/III) deficiency in Quanzhou region of Fujian Province.METHODS:
A total of 364 545 neonates were screened for inherited metabolic diseases by tandem mass spectrometry. High-throughput next generation sequencing combined with Sanger sequencing was used to detect potential variants in newborns with MAT I/III deficiency. Pathogenicity of suspected variants was predicted by using MutationTaster and HSF software.RESULTS:
Three newborns were identified with MAT I/III deficiency by newborn screening, which yielded an incidence rate of 1 in 121 515. Amino acid and acylcarnitine analysis suggested that the serum methionine of the three patients have increased to various extents. All patients showed normal growth and development during follow-up, and were found to carry MAT1A gene variants including two missense variants [c.776C>T (p.Ala259Val) and c.791G>A (p.Arg264His)] and a synonymous variant [c.360C>T (p.Cys120Cys)]. Among these, c.776C>T (p.Ala259Val) and c.791G>A (p.Arg264His) were known to be pathogenic, whereas c.360C>T (p.Cys120Cys) was a novel variant. Bioinformatics analysis suggested that this variant may alter RNA splicing and affect the structure and function of the MAT1A protein.CONCLUSION:
A systematic review of newborn screening for MAT I/III deficiency was provided. Discovery of the novel variant has enriched the variant profile of the MAT1A gene and provided a basis for the diagnosis of this disease.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Variação Genética
/
Triagem Neonatal
/
Erros Inatos do Metabolismo dos Aminoácidos
/
Metionina Adenosiltransferase
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
/
Screening_studies
/
Systematic_reviews
Limite:
Humans
/
Newborn
País como assunto:
Asia
Idioma:
Zh
Ano de publicação:
2020
Tipo de documento:
Article