FOXE1 mutations in Thai patients with oral clefts

Area of Science:

• Genetics
• Developmental Biology
• Public Health

Background:

• Non-syndromic oral clefts, including cleft lip with and without cleft palate (CL/P) and cleft palate only (CPO), are common congenital birth defects.
• The etiology of oral clefts is multifactorial, involving interactions between genetic and environmental factors.
• Previous studies suggested a potential role for the FOXE1 gene in oral cleft development in certain populations.

Purpose of the Study:

• To investigate the association of FOXE1 gene mutations with oral clefts in the Thai population.
• To identify potential genetic susceptibility variants of FOXE1 contributing to oral cleft formation in Thailand.

Main Methods:

• Genotyping of a known FOXE1 polymorphism (c.-1204C>G) using PCR-RFLP.
• Sequencing of the entire coding region of the FOXE1 gene in 458 unrelated individuals (146 CPO, 108 CL/P, and 204 controls).

Main Results:

• No association was found for the c.-1204C>G polymorphism.
• Six novel non-synonymous FOXE1 variants (p.D92Y, p.P190L, p.R222C, p.G364S, p.P191R) and one previously reported variant (p.P190R) were identified.
• These variants were found in individuals with CPO and CL/P but were absent in the control group.

Conclusions:

• The study identified probable susceptibility variants of the FOXE1 gene for oral clefts in the Thai population.
• These findings contribute to understanding the genetic basis of oral clefts in Southeast Asia.
• Further research is warranted to elucidate the functional impact of these novel FOXE1 variants.