Exome Sequencing Studies in Syndromic Patients With Cleft Lip and/or Palate: Systematic Review

Area of Science:

• Genetics
• Developmental Biology
• Medical Genomics

Background:

• Syndromic cleft lip and/or palate (CL/P) has a complex, multifactorial, and polygenic etiology.
• Identifying specific genetic variants is challenging due to phenotypic variability.

Purpose of the Study:

• To identify genetic variants in patients with syndromic CL/P using exome sequencing.
• To review current literature on genetic causes of syndromic CL/P.

Main Methods:

• A systematic review was conducted following PRISMA guidelines.
• PubMed database was searched using terms related to CL/P, syndromic conditions, and exome sequencing.
• Included studies focused on patients diagnosed with syndromic CL/P via exome sequencing.

Main Results:

• Nineteen articles were analyzed, identifying 62 genetic variants in 41 patients.
• Key genes implicated include CHD7, TP63, MEIS2, and SATB2.
• Patients were primarily from Brazil, the United States, China, and the United Kingdom.

Conclusions:

• Syndromic CL/P exhibits significant phenotypic variability, complicating single-cause genetic associations.
• While variants in certain genes are identified, their precise impact on embryonic development requires further investigation.
• Advanced genomic sequencing is vital for improving diagnostic accuracy and patient care for syndromic CL/P.