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Published on: June 8, 2017
[Hearing assessment and follow-up study of aeonatal deafness gene screening homozygous mutation infants]
1Department of Otorhinolaryngology，Zhuhai Maternal and Child Health Care Hospital，Zhuhai，519001，China.
Insights
Homozygous mutations in GJB2 c.235del C and SLC26A4 genes cause severe hearing loss in infants. GJB2 c.109G>A mutations typically result in normal hearing, requiring close monitoring.
Area of Science:
- Genetics
- Audiology
- Pediatrics
Background:
- Congenital hearing loss is a significant concern in newborns.
- Genetic factors play a crucial role in the etiology of deafness.
- Early identification and management of hearing impairment are vital for child development.
Purpose of the Study:
- To analyze hearing assessment and follow-up of infants with homozygous deafness gene mutations in Zhuhai.
- To evaluate the audiological characteristics and long-term outcomes of different genetic mutations.
- To provide guidance for genetic counseling and clinical management.
Main Methods:
- Retrospective analysis of clinical data from 28 newborns with homozygous mutations.
- Hearing screening, audiological diagnosis, and behavioral follow-up from 1 to 3 years.
- Analysis of hearing characteristics associated with specific gene mutations (GJB2, GJB3, SLC26A4).
Main Results:
- GJB2 c.109G>A homozygous mutations: 11/14 infants had normal hearing and development; 3 had mild to moderate hearing loss.
- GJB2 c.235del C homozygous mutations: 5/8 infants had severe bilateral hearing loss; 3 had mild to moderate loss.
- GJB3 547G>A and SLC26A4 mutations (4+1 cases) resulted in severe bilateral hearing loss, failing neonatal screening.
Conclusions:
- Infants with GJB2 c.235del C and SLC26A4 homozygous mutations often present with severe bilateral hearing impairment.
- GJB2 c.109G>A homozygous mutations are associated with normal hearing, but close follow-up is recommended.
- Accurate genetic counseling is essential for parents to prevent unnecessary anxiety.
Abstract:
Objective:To analyze the hearing assessment characteristics and follow-up of some deafness gene screening homozygous infants in Zhuhai. Method:The clinical data of 28 newborns with homozygous mutations transferred to Zhuhai Maternal and Child Health Hospital from Feb. 1, 2015 to Oct. 25, 2018 in hospitals of Zhuhai City were retrospectively analyzed. All the children were screened for hearing. The hearing characteristics and long-term follow-up results of homozygous mutations at different gene sites were analyzed by auditory diagnosis and behavioral follow-up from 1 to 3 years. Result:Fourteen cases of GJB2 c.109G>A with a homozygous mutation, 11 cases passed the hearing screening, the audiological diagnosis was normal, and the behavior test and follow-up were normal from 1 to 3 years. Hearing screening was not passed in 3 newborns, mild to moderate abnormalities of single or bilateral ears were diagnosed by audiology, 1 000 Hz without positive, and middle ear lesions were diagnosed. Eight cases of GJB2 c.235del C homozygous mutation were followed up by behavioral audiometry and follow-up from 1 to 3 years after cure. Among them, 5 cases were diagnosed as severe hearing impairment of bilateral ears and 3 cases as mild and moderate hearing impairment. One case of GJB3 547G>A homozygous mutation was followed up for 1-3 years, and all of them failed to pass the follow-up of behavioral audiometry and follow-up. Four cases of SLC26A4 IVS7-2A>G, 1 case of SLC26A4 1229C>T homozygous mutation, all of them failed to pass the neonatal hearing screening. All the patients were diagnosed as severe hearing impairment of binaural hearing, and the follow-up of 1-3 years' follow-up did not pass the follow-up tests. Conclusion:GJB2 C.235del C, SLC26A4 IVS7-2A>G locus homozygous mutation infant hearing impairment was mainly severe hearing impairment in bilateral ears, and there was no change in 1-3 years follow-up. GJB2 C.109G A homozygous mutant infants had normal hearing, and it was suggested that they should be followed up closely. It is very important to give correct and reasonable genetic counseling to parents with GJB2 C.109G A homozygous mutation without unnecessary panic.
