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

Nouri, Narges; Memarzadeh, Mehrdad; Salehi, Mansoor; Nouri, Nayereh; Meamar, Rokhsareh; Behnam, Mahdiyeh; Derakhshandeh, Fatemeh; Kashkoolinejad, Tahereh; Abdali, Hossein

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

Document Type : Original Article

Authors

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

² Isfahan Cleft Lip and Palate Clinic, Faculty of Rehabilitation, Isfahan; Department of Pediatric Surgery, Emam Hossein University Hospital, Isfahan, Iran

³ Department of Genetics and Molecular Biology, Medical School, Isfahan University of Medical Sciences, Isfahan; Medical Genetics Laboratory, Alzahra University Hospital, Isfahan, Iran

⁴ Isfahan Cleft Lip and Palate Clinic, Faculty of Rehabilitation, Isfahan; Medical Genetics Laboratory, Alzahra University Hospital, Isfahan, Iran

⁵ Department of Medical Sciences, Najafabad Branch, Islamic Azad University, Isfahan; Isfahan Neurosciences Research Center, Alzahra Hospital, Isfahan, Iran

⁶ Medical Genetics Laboratory, Alzahra University Hospital, Isfahan, Iran

⁷ Isfahan Cleft Lip and Palate Clinic, Faculty of Rehabilitation, Isfahan; Faculty of Rehabilitation, Speech Language Pathologist of Isfahan Cleft Care Team, Isfahan University of Medical Sciences, Isfahan, Iran

⁸ Department of Genetics and Molecular Biology, Medical School, Isfahan University of Medical Sciences, Isfahan, Iran

⁹ Isfahan Cleft Lip and Palate Clinic, Faculty of Rehabilitation, Isfahan; Department of Surgery, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran

Abstract

Background: 22q11.2 microdeletion syndrome is the most common multiple genetic disorder associated with learning disabilities, developmental delays, immune deficiency, hypocalcemia, and cleft palate. Finding some valid criteria for screening of 22q11.2 deletion syndromes in infants would be very helpful in early diagnosis and treatment.
Materials and Methods: Since 69% of individuals with 22q11.2 deletion have a palatal abnormality, we studied the prevalence of 22q11.2 deletion syndrome in 378 Iranian patients during a 5-year period, including 291 patients affected with cleft palate only without cleft lip (CPO) and 87 patients affected with velopharyngeal incompetence (VPI) and/or submucous cleft palate (SMCP). DNA copy number was analyzed with multiplex ligation-dependent probe amplification (MLPA) technique.
Results: In our study, 15/378 (3.97%) patients with palatal anomalies showed 22q11.2 deletion. Interestingly, this prevalence between syndromic patients was 15/104 (14.42%).
Conclusion: It seems that SMCP or VPI, in addition to one or more another features of 22q11.2 deletions, especially developmental delay, may be good criteria for molecular investigation of 22q11.2 region.

Keywords

References

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