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Acta Otolaryngol. 2016;136(5):475-9. doi: 10.3109/00016489.2015.1128121. Epub 2016 Jan 14.

Deafness gene mutations in newborns in Beijing.

Han S1, Yang X1,2, Zhou Y1,2,3, Hao J1,2,3, Shen A4, Xu F1, Chu P1, Jin Y1, Lu J1, Guo Y1, Shi J1,2, Liu H1,2,3, Ni X1,2.

Author information

1
a 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 ;
2
b Otolaryngology, Head and Neck Surgery , Beijing Children's Hospital, Capital Medical University , Beijing , PR China ;
3
c Pediatric Audiology Center , Beijing Children's Hospital, Capital Medical University , Beijing , PR China ;
4
d Key Laboratory of Major Diseases in Children and National Key Discipline of Pediatrics (Capital Medical University) , Ministry of Education, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University , Beijing , PR China.

Abstract

OBJECTIVE:

To determine the incidence of congenital hearing loss (HL) in newborns by the rate of deafness-related genetic mutations.

DESIGN:

Clinical study of consecutive newborns in Beijing using allele-specific polymerase chain reaction-based universal array.

STUDY SAMPLE:

This study tested 37 573 newborns within 3 days after birth, including nine sites in four genes: GJB2 (35 del G, 176 del 16, 235 del C, 299 del AT), SLC26A4 (IVS7-2 A > G, 2168 A > G), MTRNR1 (1555 A > G, 1494 C > T), and GJB3 (538 C > T). The birth condition of infants was also recorded.

RESULTS:

Of 37 573 newborns, 1810 carried pathogenic mutations, or 4.817%. The carrier rates of GJB2 (35 del G, 176 del 16, 235 del C, 299 del AT), GJB3 (538 C > T), SLC26A4 (IVS7-2 A > G, 2168 A > G), and MTRNR1 (1555 A > G, 1494 C > T) mutations were 0.005%, 0.104%, 1.924%, 0.551%, 0.295%, 0.253%, 1.387%, 0.024%, and 0.274%, respectively. Logistic regression analysis indicated no statistically significant relationship between mutations and infant sex, premature delivery, twin status, or birth weight.

CONCLUSIONS:

The 235delC GJB2 mutation was the most frequent deafness-related mutation in the Chinese population. Genetic screening for the deafness gene will help detect more cases of newborn congenital HL than current screening practices.

KEYWORDS:

Hearing loss; genes; mass screening

PMID:
26766211
DOI:
10.3109/00016489.2015.1128121
[Indexed for MEDLINE]

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