Rare missense variants in TGFBR2 and FLNA identified by whole-exome sequencing in syndromic genetic aortopathy

TGFBR2 (rare missense variant); FLNA

Rare missense variants identified by WES — candidates to validate

In a syndromic aortopathy cohort, WES identifies rare missense variants affecting TGFBR2 and FLNA. The TGFBR2 variant is particularly relevant given the phenotypic overlap with Loeys–Dietz syndrome and its absence from gnomAD.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

Illustration of the value of WES as a complement to targeted panels in syndromic patients without a molecular diagnosis. Candidate variants requiring functional validation before firm clinical use.

known genes +0; rare variants +1; possible phenotypic expansion +1; preprint −1; clinical impact +1; genes involved +2; WES complementing panel +1