[Differential diagnosis of a Chinese pedigree with methylmalonic acidemia by next-generation sequencing].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(7): 694-697, 2022 Jul 10.
Article
em Zh
| MEDLINE
| ID: mdl-35810423
ABSTRACT
OBJECTIVE:
To explore the genetic etiology of a child with suspected propionic acidemia.METHODS:
Genomic DNA was extracted from peripheral blood sample of the child and subjected to high-throughput sequencing to screen pathogenic variants of genes associated with methylmalonic acidemia and propionic acidemia, including MUT, MMACHC, MMAA, MMAB, MMADHC, LMBRD1, PCCA, PCCB and SLC22A5. Candidate variants were verified by Sanger sequencing of the proband, her parents and sister.RESULTS:
The proband was found to harbor two pathogenic variants of the MUT gene, namely c.1560+2T>C and c.729_730insTT (p.Asp244fs), but not in genes associated with propionic acidemia. Her sister and father had carried c.1560+2T>C, and her mother had carried c.729_730insTT (p.Asp244fs).CONCLUSION:
The proband was diagnosed as methylmalonic acidemia due to compound heterozygous variants of c.1560+2T>C and c.729_730insTT (p.Asp244fs) of the MUT gene. Her elder sister and parents were all carriers. Genetic testing has facilitated differential diagnosis of methylmalonic acidemia and propionic acidemia in this pedigree.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Acidemia Propiônica
/
Erros Inatos do Metabolismo dos Aminoácidos
Tipo de estudo:
Diagnostic_studies
Limite:
Aged
/
Child
/
Female
/
Humans
País/Região como assunto:
Asia
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
China