[Analysis of clinical characteristics and genetic variants in a child with Isolated sulfite oxidase deficiency].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(8): 986-989, 2023 Aug 10.
Article
en Zh
| MEDLINE
| ID: mdl-37532499
ABSTRACT
OBJECTIVE:
To explore the genetic basis for a child with Isolated sulfite oxidase deficiency (ISOD).METHODS:
The child and her parents were subjected to targeted capture and next-generation sequencing. Pathogenicity of candidate variants was assessed based on the guidelines from the American College of Medical Genetics and Genomics (ACMG).RESULTS:
The child was found to harbor compound heterozygous variants of the SUOX gene, namely c.1200C>G (p.Tyr400*) and c.1406_1421delCCTGGCAGGTGGCTAA (p.Thr469Serfs*20), which were inherited from her mother and father, respectively. The c.1200C>G was a known pathogenic variant, while the c.1406_1421delCCTGGCAGGTGGCTAA was unreported previously and predicted to be a pathogenic variant (PVS1+PM2_Supporting +PM3) based on the guidelines from the American College of Medical Genetics and Genomics.CONCLUSION:
The compound c.1200C>G and c.1406_1421delCCTGGCAGGTGGCTAA variants of the SUOX gene probably underlay the pathogenesis of ISOD in this child. Above finding has expanded the spectrum of SUOX gene variants and provided molecular evidence for the clinical diagnosis and genetic counseling for this pedigree.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Errores Innatos del Metabolismo de los Aminoácidos
Tipo de estudio:
Guideline
/
Prognostic_studies
Límite:
Child
/
Female
/
Humans
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Asunto de la revista:
GENETICA MEDICA
Año:
2023
Tipo del documento:
Article
País de afiliación:
China