A case of SIFD syndrome caused by novel compound heterozygous variants of TRNT1 gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 977-980, 2021.
Article
in Zh
| WPRIM
| ID: wpr-921980
Responsible library:
WPRO
ABSTRACT
OBJECTIVE@#To detect variant of TRNT1 gene in a child featuring sideroblastic anemia with B-cell immunodeficiency, periodic fever and developmental delay (SIFD).@*METHODS@#The proband and his parents were analyzed through trio-whole exome sequencing. Sanger sequencing and bioinformatic analysis were carried out to verify the candidate variant sites associated with the clinical phenotype.@*RESULTS@#Genetic testing showed that the proband has carried compound heterozygous variants of the TRNT1 gene, namely c.88A>G(p.Met30Val) and c.363G>T(p.Glu121Asp). Sanger sequencing confirmed that the variants were respectively inherited from his father and mother. The variants were unreported previously. By bioinformatic analysis, both variants were predicted to affect the stability of binding of the TRNT1 protein with tRNA. Based on the American College of Medical Genetics and Genomics standards and guidelines, c.88A>G and c.363G>T variants of TRNT1 gene were predicted to be uncertain significance (PM2+PP3+PP4) and likely pathogenic (PM1+PM2+PP3+PP4), respectively.@*CONCLUSION@#The c.88A>G (p.Met30Val) and c.363G>T(p.Glu121Asp) compound heterozygous variants of the TRNT1 gene probably underlay the disease in this patient. Above finding has enriched the spectrum of TRNT1 gene variants.
Full text:
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Index:
WPRIM
Main subject:
Genetic Testing
/
Nucleotidyltransferases
Type of study:
Guideline
/
Prognostic_studies
Limits:
Humans
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2021
Type:
Article