Relationship of deafness genes carrying by mothers with the congenital deafness in newborns

Objective To analyze the risk factors of congenital deafness in newborns based on gene carrying status and clinical data of deafness in pregnant women.

Methods Clinical data of 1 023 neonates and their mothers were collected. High-throughput sequencing (HTS) technology was used to detect deafness genes and mutation sites of neonates and their mothers. Hearing disorder of neonates were initially screened with transient induced otoacoustic emission (TEOAE) and re-screened with automatic auditory brainstem response (AABR). According to the grading criteria of hearing loss, all neonates were divided into abnormal group (n=66) and normal group (n=957). The risk factors of neonatal deafness were analyzed by binary Logistic analysis.

Results The results of HTS showed that 62 cases (6.06%) of the deafness gene carriers were detected in 1, 023 pregnant women with normal hearing. Among the 62 pregnant women with deafness gene, 42 cases (67.74%) had GJB2 gene mutation, 14 cases (22.58%) had SLC26A4 gene mutation, 4 cases (6.45%) had GJB3 gene mutation, and 2 cases (3.23%) had mitochondrial 12SrRNA mutation. Among 1, 023 neonates, 73 (7.14%) were found to be carriers of deafness gene. Among the 73 neonates with deafness genes, 39 cases (53.42%) had GJB2 gene mutation, 25 cases (34.25%) had SLC26A4 gene mutation, 5 cases (6.85%) had GJB3 gene mutation, and 4 cases (5.48%) had mitochondrial 12SrRNA mutation. Binary Logistic model analysis based on the genetic status of deafness in pregnant women showed that carrying 299_300delAT heterozygous gene, 547G>A heterozygous gene, 1555 A>G gene mutation were independent risk factors for neonatal deafness. Binary Logistic model analysis based on the clinical data showed that preterm birth, external ear malformation and hyperbilirubinemia were clinically independent risk factors for neonatal deafness (P < 0.05).

Conclusion Carrying 299_300delAT heterozygous, 547G>A heterozygous and 1555 A>G gene mutation sites in mother are independent risk factors for neonatal congenital deafness.