Genetic profiling and cardiovascular phenotypic spectrum in a Chinese cohort of Loeys-Dietz syndrome patients.

ABSTRACT:

Background

Loeys-Dietz syndrome (LDS) is a rare connective tissue disorder for which 6 genes in the TGF-β pathway have been identified as causative. With the widespread use of genetic testing, the range of known clinical and genetic profiles has broadened, but these features have not been fully elucidated thus far.

Methods and results

Using gene panel sequencing or whole exome sequencing, we identified 54 unique rare variants in LDS genes in 57 patients with thoracic aneurysms/dissections, including 27 pathogenic mutations (P + LP) and 27 variants of unknown significance (VUS^LP + VUS). Genotype-phenotype correlation analysis revealed that carriers with P/LP/ VUS^LP variants in TGFBR1/TGFBR2/SMAD3 genes had significantly more severe cardiovascular feature

SUBMITTER: Yang H 

PROVIDER: S-EPMC6950884 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature