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Article

Distinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 818 trios.

American journal of human genetics - 6 Nov 2025

Robinson Kelsey R, Curtis Sarah W, Paschall Justin E, Adeyemo Wasiu Lanre, Beaty Terri H, Butali Azeez, Buxó Carmen J, Cutler David J, Epstein Michael P, Gowans Lord J J, Hecht Jacqueline T, Shaw Gary M, Uribe Lina Moreno, Murray Jeffrey C, Brand Harrison, Weinberg Seth M, Marazita Mary L, Doheny Kimberly F, Leslie-Clarkson Elizabeth J

Abstract excerpt

De novo variants (DNs) are sporadically occurring variants found in an offspring but absent in both parents. DNs most commonly arise in the germline and are not under selective pressure; therefore, they may be enriched for disease-causing alleles. In fact, DNs have been implicated in multiple rare genetic disorders. Cleft palate (CP) is a craniofacial congenital anomaly occurring in ∼1 in 1,700 live births....

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Identifiers

PMID: 41056948
DOI: 10.1016/j.ajhg.2025.09.009
PMCID: PMC12808955

Genes

CP
SATB2
ZC4H2
COL2A1
EFTUD2
KAT6B
MEIS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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