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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
Article em Zh | WPRIM | ID: wpr-922028
Biblioteca responsável: WPRO
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.
Assuntos
Texto completo: 1 Índice: WPRIM Assunto principal: Linhagem / Ecocardiografia / China / Síndrome de Loeys-Dietz / Sequenciamento do Exoma / Receptor do Fator de Crescimento Transformador beta Tipo I / Mutação Tipo de estudo: Prognostic_studies Limite: Humans País/Região como assunto: Asia Idioma: Zh Revista: Chinese Journal of Medical Genetics Ano de publicação: 2021 Tipo de documento: Article
Texto completo: 1 Índice: WPRIM Assunto principal: Linhagem / Ecocardiografia / China / Síndrome de Loeys-Dietz / Sequenciamento do Exoma / Receptor do Fator de Crescimento Transformador beta Tipo I / Mutação Tipo de estudo: Prognostic_studies Limite: Humans País/Região como assunto: Asia Idioma: Zh Revista: Chinese Journal of Medical Genetics Ano de publicação: 2021 Tipo de documento: Article