[Mutation spectrum analysis of 23-site chip neonatal deafness genetic screening].
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
; 38(4): 267-272, 2024 Apr.
Article
in Zh
| MEDLINE
| ID: mdl-38563166
ABSTRACT
Objective:
To analyze the mutation spectrum of 23-site chip newborn deafness genetic screening in Beijing, and to provide basis for genetic counseling and clinical diagnosis and treatment.Methods:
The study included 21 006 babies born in Beijing from December 2022 to June 2023. All subjects underwent newborn deafness genetic screening in Beijing Tongren Hospital, covering 23 variants in 4 genes, the GJB2 geneï¼c.35delG, c.176_191del16, c.235delC, c.299_300delAT, c.109G>A, c.257C>G, c.512insAACG, c.427C>T, c.35insGï¼, SLC26A4 geneï¼c.919-2A>G, c.2168A>G, c.1174A>T, c.1226G>A, c.1229C>T, c.1975G>C, c.2027T>A, c.589G>A, c.1707+5G>A, c.917insG, c.281C>Tï¼, Mt12SrRNAï¼m.1555A>G, m.1494C>Tï¼ and GJB3 geneï¼c.538C>Tï¼. The mutation detection rate and allele frequency were analyzed.Results:
The overall mutation detection rate was 11.516%ï¼2 419/21 006ï¼, with the GJB2 gene being the most frequently involved at 9.097%ï¼1 911/21 006ï¼, followed by the SLC26A4 gene at 2.123%ï¼446/21 006ï¼, the GJB3 gene at 0.362%ï¼76/21 006ï¼ and Mt12SrRNA at 0.176%ï¼37/21 006ï¼. Among the GJB2 genes, c.109G>A and c.235delC mutation detection rates were the highest, with 6.579%ï¼1 382/21 006ï¼ and 1.795%ï¼377/21 006ï¼, respectively. Of the SLC26A4 genes, c.919-2A>G and c.2168A>G had the highest mutation rates of 1.423%ï¼299/21 006ï¼ and 0.233%ï¼49/21 106ï¼, respectively. Regarding the allele frequency, GJB2 c.109G>A was the most common variant with an allele frequency of 3.359%ï¼1 411/42 012ï¼, followed by the GJB2 c.235delC at 0.897%ï¼377/42 012ï¼ and the SLC26A4 c.919-2A>G at 0.719%ï¼302/42 012ï¼.Conclusion:
23-site chip newborn deafness genetic screening in Beijing showed that GJB2 c.109G>A mutation detection rate and allele frequency were the highest. This study has enriched the epidemiological data of 23-site chip genetic screening mutation profiles for neonatal deafness, which can provide evidence for clinical practice.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Deafness
/
Hearing Loss
Limits:
Humans
/
Infant
/
Newborn
Country/Region as subject:
Asia
Language:
Zh
Journal:
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
Year:
2024
Document type:
Article
Publication country:
CHINA
/
CN
/
REPUBLIC OF CHINA