Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores.

Mol Genet Genomic Med · 2023 · PMC10009911 · PMID 36468602

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nominally significantno p-value reported

In the gene‐based analysis, four candidate genes ( CDH1 ; Transmembrane Channel like 6 ( TMC6 [MIM:605828]; NM_001127198.5 ); Eukaryotic Translation Initiation Factor 3 Subunit G ( EIF3G [MIM:603913]; NM_003755.4 ); and TRMO ) showed a nominally significant enrichment for deleterious variants in the European patients ( p CDH1 = 0.0019, p TMC6 = 0.0132, p EIF3G = 0.0133, p TRMO = 0.0399) (Table S7 ).

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