Detection of Single Nucleotide Polymorphism (SNP) Rs2235371 of IRF6 Gene in Egyptian Patients with Non-Syndromic Cleft Lip and Palate

Not yet recruiting

• Conditions: Cleft Lip and Cleft Palate

• Registration Number: NCT06730880
• Lead Sponsor: Assiut University

Brief Summary

The aim of this work is to study the relation between SNP rs2235371 of IRF 6 gene and Non-Syndromic Cleft Lip and Palate in Egyptian Patients in a prospective study

Detailed Description

Infants born with facial deformities, such as cleft lip and palate (CL/P), often face lifelong challenges, including communication issues, aesthetic concerns, and difficulty with swallowing, which impact both health and social behavior. Without treatment, these conditions require specialized care and lead to higher rates of morbidity and mortality. Surgeries, including speech and dental interventions, can help manage these conditions from early childhood . CL/P is one of the most common craniofacial birth defects, affecting populations worldwide, with Asian populations experiencing the highest prevalence at 1/500 live births.

Cleft palate (CP) results from incomplete closure of the palate shelves in early prenatal development. Depending on severity, it may range from a minor fissure to a full gap between the mouth and nasal cavity, necessitating surgical repair. CL/P is categorized as syndromic or non-syndromic, with the latter resulting from failure of palatal fusion between 4-12 weeks of embryogenesis, influenced by factors such as single-gene mutations, chromosomal abnormalities, and environmental interactions.

Key genetic mutations linked to CL/P include those in the IRF6, PVRL1, TP63, FGFR1, and TBX22 genes, with IRF6 SNPs being particularly significant . Family history increases risk, while gene-environment interactions, maternal drug use, non-gestational diabetes, and vitamin deficiencies contribute further. A multidisciplinary approach is essential for managing CL/P, supporting children's functional and aesthetic outcomes from birth through adulthood.

Study Timeline

• Status Verified: 2024-12
• Study First Submitted: 2024-12-09
• Study First Submitted QC: 2024-12-09
• Last Update Submitted: 2024-12-09
• Study First Posted: 2024-12-12
• Last Update Posted: 2024-12-12
• Study Start: 2025-01-01
• Primary Completion: 2026-01-01
• Study Completion: 2026-02-01

Recruitment & Eligibility

• Status: NOT_YET_RECRUITING
• Sex: All
• Target Recruitment: 200

Inclusion Criteria

• Patients with Non-Syndromic Cleft lip or Cleft lip and palate.

Exclusion Criteria

• Patients with Syndromic CLP.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Study the relation between the presence of SNP rs2235371 and Non-Syndromic CLP	From enrollment to 48 hours after.	The primary outcome of this study is to investigate the relationship between the presence of the single nucleotide polymorphism (SNP) rs2235371 and the occurrence of non-syndromic cleft lip with or without cleft palate (NSCLP). By analyzing the genetic association between rs2235371 and NSCLP, the research aims to identify potential genetic risk factors contributing to the development of this congenital condition.