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

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

Study Overview

• Status: Not yet recruiting
• Conditions: Cleft Lip and Cleft Palate
• Intervention / Treatment: Diagnostic test: PCR

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 Type: Observational
• Enrollment (Estimated): 200

Contacts and Locations

• Study Contact: Name: Omar M Elsharkawy; Phone Number: +201098065292; Email: omarelsharkawy111@gmail.com

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

The study population consists of individuals diagnosed with cleft lip or cleft lip and palate (CLP). The inclusion criteria are limited to patients with non-syndromic CLP to focus on genetic factors specific to this condition. Patients diagnosed with syndromic CLP, where clefting is associated with other syndromic features or conditions, are excluded to avoid confounding factors and ensure the study's focus remains on non-syndromic cases.

Description

Inclusion Criteria:

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

Exclusion Criteria:

• Patients with Syndromic CLP.

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Study the relation between the presence of SNP rs2235371 and Non-Syndromic CLP	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.	From enrollment to 48 hours after.

Collaborators and Investigators

• Sponsor: Assiut University

Study record dates

Study Major Dates

• Study Start (Estimated): January 1, 2025
• Primary Completion (Estimated): January 1, 2026
• Study Completion (Estimated): February 1, 2026

Study Registration Dates

• First Submitted: December 9, 2024
• First Submitted That Met QC Criteria: December 9, 2024
• First Posted (Estimated): December 12, 2024

Study Record Updates

• Last Update Posted (Estimated): December 12, 2024
• Last Update Submitted That Met QC Criteria: December 9, 2024
• Last Verified: December 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Musculoskeletal Diseases; Mouth Diseases; Stomatognathic Diseases; Jaw Diseases; Jaw Abnormalities; Maxillofacial Abnormalities; Craniofacial Abnormalities; Musculoskeletal Abnormalities; Stomatognathic System Abnormalities; Congenital Abnormalities; Lip Diseases; Mouth Abnormalities; Cleft Lip; Cleft Palate
• Other Study ID Numbers: PCR in Cleft Lip & Palate

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No