Echocardiographic manifestation and analysis of TGFBR1 gene variant in a Chinese patient with Loeys-Dietz syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1220-1223, 2021.
Article
in Chinese
| WPRIM
| ID: wpr-922028
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a patient with aortic root aneurysm and valve insufficiency.@*METHODS@#The patient was subjected to whole exome sequencing (WES) with a focus on the analysis of genes related to aortic aneurysm and other genetic diseases involving the cardiovascular system. Suspected pathogenic site was validated by Sanger sequencing of the patient and his family members.@*RESULTS@#WES has revealed a heterozygous c.830T>C variant (NM_001130916.3) in the patient, which was not detected among healthy members of his family. SIFT, PolyPhen2 and Mutation Taster predicted the variant to be disease causing, resulting in destruction of the structure and function of the TGFBR1 protein. Based on the American College of Medical Genetics and Genomics (ACMG) guidelines, the variant was predicted to be likely pathogenic (PM1+PM2+PM6+PP3+PP4).@*CONCLUSION@#The c.830T>C variant of the TGFBR1 gene probably underlay the disease in the proband. Above finding has enriched the spectrum of TGFBR1 gene variants in Chinese population.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Echocardiography
/
China
/
Loeys-Dietz Syndrome
/
Exome Sequencing
/
Receptor, Transforming Growth Factor-beta Type I
/
Mutation
Type of study:
Prognostic study
Limits:
Humans
Country/Region as subject:
Asia
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2021
Type:
Article
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