[Audiological and genetic studies on 130 infants with hearing loss].
OBJECTIVE
To investigate the genetic etiologies in the 0- 3-years-old infants with hearing loss and to analyze the interaction between genetics and environmental factors.


METHODS
Total of 130 infants were performed detailed audiological evaluation as well as the detection of the popular deafness gene mutations in GJB2 gene, SLC26A4 and mtDNA12SrRNA. Of them, 84 cases were performed the computer tomography or magnetic resonance imaging examinations.


RESULTS
Of the 130 cases, 54 infants were diagnosed as large vestibular aqueduct syndrome, while seven of 130 were as auditory neuropathy and the others were diagnosed as sensorineural hearing loss. Considering of the risks of etiologies for hearing loss, 85 of them had the experiences of the high risk factors at birth (65.4%, 85/130), while 23 of them had the exposure of aminoglycoside antibiotics, and 13 had the family history background as well as two cases were from the consanguineous families. In the causative genes screening, 42 infants were caused by the mutations of SLC26A4 gene (32.3%), but 14 infants found the mutations in GJB2 gene (4.6%), and no infants carried the mutation in mtDNA 12SrRNA 1555G and 1494T points in our studies.


CONCLUSIONS
In our studies, about 36.9% infants hearing loss cases can be found the mutations in SLC26A4 and GJB2 genes. It is essential to put the idea into the hearing evaluation combined with genetic testing for the diagnoses of hearing loss. It is also helpful for exploring the etiologies of hearing loss and performing the target genetic consulting for decreasing the prevalence of deafness in the future.
Wang
Da-yong
DY
Department of Otorhinolaryngology Head and Neck Surgery, Institute of Otorhinolaryngology, Chinese People's Liberation Army General Hospital, Beijing 100853, China.
Wang
Qiu-ju
QJ
Lan
Lan
L
Shi
Wei
W
Zhao
Cui
C
Hui
Pei-lin
PL
Rao
Shao-qi
SQ
Han
Dong-yi
DY
D002675:Child, Preschool; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics; D005260:Female; D005820:Genetic Testing; D034381:Hearing Loss / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics*; D006320:Hearing Tests; D006801:Humans; D007223:Infant; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics; D012335:RNA, Ribosomal / Q000235:genetics; D000076988:Sulfate Transporters
D017630:Connexins; D004272:DNA, Mitochondrial; C000607042:GJB2 protein, human; D026901:Membrane Transport Proteins; D012335:RNA, Ribosomal; C075526:RNA, ribosomal, 12S; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; D000072259:Connexin 26