Four Loss of Function Pathogenic Variants in ARHGAP29 in Non-Syndromic Cleft Lip and Palate
Miikka Vikkula,
Peyman Ranji,
Eleonore Pairet
et al.
Abstract:The pathophysiological basis of non-syndromic cleft lip and/or palate (NsCL/P) is still largely unclear. However, exome sequencing (ES) has allowed to associate several genes with NsCL/P, often with reduced penetrance. Among these genes, the Rho GTPase activating protein 29 (ARHGAP29) has been previously implicated in 7 families with NsCL/P. We investigated a cohort of 224 NsCLPs for which no genetic mutation had been identified by diagnostic testing. We used ES and bioinformatic variant filtering and identifi… Show more
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