Genetic analysis and functional assessment of a TGFBR2 variant in micrognathia and cleft palate.

ABSTRACT: Cleft lip and cleft palate are among the most common congenital anomalies and are the result of incomplete fusion of embryonic craniofacial processes or palatal shelves, respectively. We know that genetics play a large role in these anomalies but the list of known causal genes is far from complete. As part of a larger sequencing effort of patients with congenital craniofacial anomalies, we identified a rare candidate variant in transforming growth factor beta receptor 2 (TGFBR2). This variant alters a highly conserved amino acid and is predicted to be pathogenic by a number of metrics. The family history and population genetics suggest that this specific variant would be incompletely penetrant, but this gene has been convincingly implicated in craniofacial development. In order to test the

SUBMITTER: Michaels JR 

PROVIDER: S-EPMC12148102 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature