P677: Whole-exome sequencing identifies new candidate genes for non-syndromic orofacial clefts

Genetics in Medicine Open 2026 Open access

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Authors: Felipe Ricardo Oliveira, Vitor Henrique Bida, Liya Regina Mikami, Nara Sobreira, Daniah Albokhari, Salmo Raskin, Noura Al Dhaheri
DOI: 10.1016/j.gimo.2026.104167
Cited by: 1

Abstract

Orofacial clefts (OFCs) are the most common craniofacial birth defects in human occurring 1 in 700 individuals. In Brazil the incidence is around 0.4-0.7:1000 newborns. About 70% of the OFCs are nonsyndromic. Although several genes were identified as potential risk factors for nonsyndromic OFCs, only a few causal variants are known. The advancement in Exome sequencing technology allows identification of genetic variability and may contribute to delineating the molecular genetic etiologies of this anomaly.

Fields of Study & Subjects

Cleft Lip and Palate Research Hedgehog Signaling Pathway Studies Folate and B Vitamins Research

Publication details

Journal / source
Genetics in Medicine Open
Publisher
Elsevier BV
Volume
4
Pages
104167–104167
Publication date
1 January 2026
Language
EN