The Clinical Characteristics of Patients with Deafness Gene Related Hearing Loss in Children / 听力学及言语疾病杂志

ABSTRACT

Objective To study the age, the degree of hearing loss and the characteristics of inner ear imaging in children with GJB2 and SLC26A4 gene mutation-related deafness.Methods A total of 218 children with GJB2 and SLC26A4 gene mutations were enrolled in this study.Among them, with the combined test of deafness gene chip and DNA sequencing, 123 patients were diagnosed with GJB2 homozygous or complex mutations, and 95 patients were diagnosed with SLC26A4 homozygous or complex mutations.The age of the onset, the degrees of hearing loss and CT features of the temporal bone in children with GJB2 and SLC26A4 mutations were studied.Results The incidence of GJB2 and SLC26A4 gene mutations was 43.09%, 37.40%, 14.63%, 4.88% and 24.2%, 44.21%, 18.95% and 12.63% in the periods of infancy,early childhood,preschool and shoolage,respectively.The age composition of onset in the two groups showed statistical significance(P=0.014).The constituent ratio of children with moderate, severe and extremely severe degrees of hearing loss in the two groups with GJB2 and SLC26A4 gene mutations were 8.94%, 17.89%, 73.17% and 9.47%, 34.74% and 55.79%, respectively.Most of the group with GJB2 gene mutation had profound hearing loss, and the composition ratio of hearing loss degree in SLC26A4 group was statistically significant(P=0.014).99.19% of the children with GJB2 gene mutation group had normal structures of the inner ears.Only one case of CT showed bilateral internal auditory canal stenosis.For 95.79% of the children with SLC26A4 gene mutation, the CT results of the temporal bone were associated with the vestibular aqueduct expansion.Conclusion The onset age of GJB2 gene mutation children is concentrated in the infancy.Most of them are with very severe sensorineural deafness, not associated with the inner ear malformation.The onset age of SLC26A4 gene deafness children is concentrated in the early childhood.Most of them are with severe and extremely sever sensorineural deafness, closely related to vestibular aqueduct expansion and inner ear malformations.