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Prevalence of 22q11.2 microdeletion syndrome in Iranian patients with cleft palate

Narges Nouri1, Mehrdad Memarzadeh2, Mansoor Salehi3

  • 1Isfahan Cleft Lip and Palate Clinic, Faculty of Rehabilitation, Isfahan University of Medical Sciences, Isfahan, Iran; Department of Genetics and Molecular Biology, Medical School, Isfahan University of Medical Sciences, Isfahan, Iran.

Advanced Biomedical Research
|February 21, 2017
PubMed

Insights

22q11.2 microdeletion syndrome, a common genetic disorder, was found in 3.97% of Iranian infants with palatal anomalies. Submucous cleft palate or velopharyngeal incompetence combined with developmental delay may indicate the need for genetic testing.

Area of Science:

  • Genetics
  • Pediatrics
  • Medical Diagnostics

Background:

  • 22q11.2 microdeletion syndrome is a frequent genetic disorder linked to developmental issues, immune problems, and cleft palate.
  • Early diagnosis and treatment are crucial for managing this condition.
  • Identifying effective screening criteria for infants is essential.

Purpose of the Study:

  • To determine the prevalence of 22q11.2 deletion syndrome in Iranian infants with palatal anomalies.
  • To explore potential screening criteria for early identification of 22q11.2 deletion syndrome.

Main Methods:

  • A 5-year study involving 378 Iranian patients with palatal anomalies.
  • Patients included those with cleft palate only (CPO) and those with velopharyngeal incompetence (VPI) and/or submucous cleft palate (SMCP).
  • DNA copy number analysis was performed using multiplex ligation-dependent probe amplification (MLPA).

Main Results:

  • 15 out of 378 patients (3.97%) with palatal anomalies were diagnosed with 22q11.2 deletion.
  • The prevalence was significantly higher (14.42%) in syndromic patients.

Conclusions:

  • Submucous cleft palate (SMCP) or velopharyngeal incompetence (VPI) alongside other 22q11.2 deletion features, particularly developmental delay, may serve as effective criteria for molecular investigation.
  • These findings can aid in developing targeted screening strategies for early diagnosis.
Abstract

Keywords:
Chromosome 22q11.2 deletion syndromeDiGeorge syndromeIraniancleft palatedevelopmental delay

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