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Deafness gene mutations in newborns in Beijing
Shujing Han1, Xiaojian Yang1,2, Yi Zhou1,2,3
1a Beijing Key Laboratory for Pediatric Diseases of Otolaryngology, Head and Neck Surgery , Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University , Beijing , PR China ;
Acta Oto-Laryngologica
|January 15, 2016
Summary
Genetic screening identified a 4.8% carrier rate for deafness mutations in 37,573 newborns. The 235delC GJB2 mutation is most common, suggesting genetic testing can improve congenital hearing loss detection.
Area of Science:
- Genetics
- Neonatal screening
- Public health
Background:
- Congenital hearing loss (HL) affects newborns globally.
- Identifying genetic causes is crucial for early intervention.
- Prevalence of deafness-related mutations varies across populations.
Purpose of the Study:
- To determine the incidence of congenital hearing loss (HL) in newborns by assessing the rate of deafness-related genetic mutations.
- To identify the most prevalent deafness-related genetic mutations in a Chinese newborn population.
Main Methods:
- A clinical study involving 37,573 consecutive newborns in Beijing.
- Utilized allele-specific polymerase chain reaction-based universal array for genetic testing.
- Tested for nine specific mutations in four key genes: GJB2, SLC26A4, MTRNR1, and GJB3.
Main Results:
- A carrier rate of 4.817% (1810 out of 37,573 newborns) for pathogenic mutations was found.
- The SLC26A4 (IVS7-2 A > G) mutation was the most frequent, with a carrier rate of 1.924%.
- No statistically significant relationship was observed between mutation status and infant sex, prematurity, twin status, or birth weight.
Conclusions:
- The 235delC GJB2 mutation is the most frequent deafness-related mutation in the studied Chinese population.
- Genetic screening for deafness genes can enhance the detection of congenital hearing loss in newborns.
- This approach offers a more effective strategy than current screening practices for identifying at-risk infants.
