Obstructive sleep apnea syndrome (OSAS) is a complex disorder characterized by the collapse of the upper airway during sleep. Although a family history often suggests a hereditary predisposition to OSAS, there is little evidence that it is actually a monogenic disorder....
✦ The floor
Discussion
Signed responses from readers of the wire.
No actionable change for audiologists; this genetic finding relates to sleep medicine and ENT, with no direct implication for audiology clinical practice at this time.
Identifying a single-gene cause of obstructive sleep apnea opens a pathway for genetic screening in affected families and may eventually intersect with audiology given the overlap between sleep apnea and hearing health.
- 01A novel variant (c.980_984dup) in the COL1A2 gene is reported as a cause of autosomal dominant obstructive sleep apnea.
- 02COL1A2 encodes a collagen protein; this variant is thought to cause structural weakness leading to upper airway collapse.
- 03Autosomal dominant inheritance means a 50% chance of passing the condition to each child.
- 04This is described as a new genetic variant, making it a first-of-its-kind report for this specific mutation.
- 05The finding is primarily relevant to sleep medicine and genetics rather than audiology directly.
A novel COL1A2 variant (c.980 984dup) causes autosomal dominant obstructive sleep apnea syndrome.
studypartially supportedThe COL1A2 variant leads to upper airway collapse during sleep due to genetic predisposition.
studyunclear- PMID
- 42403858
- DOI
- 10.7759/cureus.110316.
- Journal
- Cureus
- Publication type
- case_report
- Evidence level
- 4
- Sample size
- 1
- Population
- Family/individual with autosomal dominant obstructive sleep apnea syndrome
- Intervention
- Genetic identification of novel COL1A2 variant c.980_984dup
Primary outcomes
Identification of novel COL1A2 variant as cause of autosomal dominant obstructive sleep apnea; Characterization of the genetic and clinical phenotype