Congenital Middle Ear Malformation with Common Deafness Gene Mutation Analysis: A Review of 813 Profound Sensorineural Hearing Loss Child Patients.

ABSTRACT

Deafness gene variants play a key role in inner ear malformations. However, the relationship between congenital middle ear malformations and common deafness genes (GJB2, SLC26A4, and mtDNA) in profound sensorineural hearing loss (SNHL) child patients remains poorly investigated. Here we showed that there was no statistical significance in the total mutation frequency of the three common deafness genes in the middle ear malformation group (21.2%, 41/193) in comparison with the normal middle ear and inner ear group (21.0%, 116/553) (χ2 = 0.0061, p = 0.940). Moreover, the mutation ratio of GJB2 and SLC26A4 in the middle ear malformation group (18.7%, 36/193; 2.6%, 5/193) was not significantly different from that in the normal middle ear and inner ear group (17.7%, 98/553; 2.4%, 13/553) (χ2 = 0.084, p = 0.772; χ2 = 0.0000, p = 1.000). The mutation ratio of GJB2 235delC and GJB2 79G>A in the middle ear malformation group (8.8%, 17/193; 8.8%, 17/193) was almost the same to that in the normal middle ear and inner ear group (8.6%, 48/553; 6.7%, 37/553) (χ2 = 0.0030, p = 0.957; χ2 = 0.9556, p = 0.328). The high jugular bulb subgroup analysis also showed the same results. Our findings suggested that GJB2, SLC26A4, and mtDNA mutations might not be related to the middle ear malformations in profound SNHL child patients. Anat Rec, 303594-599, 2020. © 2019 American Association for Anatomy.