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Obstructive sleep apnea syndrome (OSAS) in children with Class III malocclusion: involvement of the PHOX2B gene

Anna Maria Lavezzi1, Valentina Casale, Roberta Oneda

  • 1Department of Biomedical, Surgical and Dental Sciences, "Lino Rossi" Research Center for the Study and Prevention of Unexpected Perinatal Death and SIDS, University of Milan, Via della Commenda, 19-20122, Milan, Italy, anna.lavezzi@unimi.it.

Sleep & Breathing = Schlaf & Atmung
|March 29, 2013
PubMed

Insights

Silent mutations in the PHOX2B gene were found in 32% of children with Class III malocclusion and sleep apnea. These genetic findings may link this condition to congenital central hypoventilation syndrome.

Area of Science:

  • Genetics
  • Pediatric Medicine
  • Sleep Medicine

Background:

  • Obstructive sleep apnea syndrome (OSAS) in children can be associated with craniofacial abnormalities.
  • Congenital central hypoventilation syndrome (CCHS) is linked to the PHOX2B gene and presents with sleep apnea and malocclusions.
  • Class III malocclusion is a common dental anomaly in children, sometimes associated with breathing issues.

Purpose of the Study:

  • To investigate the potential role of the PHOX2B gene in children with Class III malocclusion and obstructive sleep apnea syndrome.
  • To explore molecular links between Class III malocclusion, sleep-related breathing disorders, and CCHS.

Main Methods:

  • Genomic DNA was extracted from oral cells of 50 children (8-14 years) with Class III malocclusion and a history of sleep apnea.
  • Twenty age-matched healthy children served as controls.
  • The PHOX2B gene genotype was specifically analyzed in all subjects.

Main Results:

  • Point "silent" mutations in the PHOX2B gene were identified in 32% of children with Class III malocclusion.
  • No PHOX2B gene mutations were detected in the control group (0%).
  • These mutations affected various nucleotides within the PHOX2B gene.

Conclusions:

  • Silent mutations in the PHOX2B gene may contribute to Class III malocclusion and sleep-related breathing disorders in children.
  • These genetic findings suggest a potential molecular overlap between OSAS with Class III malocclusion and CCHS.
  • The PHOX2B gene mutations could lead to structural and functional changes, manifesting similar features to CCHS.
Abstract

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