Newborn genetic screening for hearing impairment: A preliminary study at a tertiary center
Journal
PLoS ONE
Journal Volume
6
Journal Issue
7
Date Issued
2011
Author(s)
Abstract
Universal newborn hearing screening (UNHS) is of paramount importance for early identification and management of hearing impairment in children. However, infants with slight/mild, progressive, or late-onset hearing impairment might be missed in conventional UNHS. To investigate whether genetic screening for common deafness-associated mutations could assist in identifying these infants, 1017 consecutive newborns in a tertiary hospital were subjected to both newborn hearing screening using a two-step distortion-product otoacoustic emissions (DPOAE) screening and newborn genetic screening (NGS) for deafness. The NGS targeted 4 deafness-associated mutations commonly found in the Taiwanese population, including p.V37I (c.109G>A) and c.235delC of the GJB2 gene, c.919-2A>G of the SLC26A4 gene, and mitochondrial m.1555A>G of the 12S rRNA gene. The results of the NGS were then correlated to the results of the NHS. Of the 1017 newborns, 16 (1.6%) had unilateral DPOAE screening failure, and 22 (2.2%) had bilateral DPOAE screening failure. A total of 199 (19.6%) babies were found to have at least 1 mutated allele on the NGS for deafness, 11 (1.1%) of whom were homozygous for GJB2 p.V37I, 6 (0.6%) compound heterozygous for GJB2 p.V37I and c.235delC, and 1 (0.1%) homoplasmic for m.1555A>G, who may potentially have hearing loss. Among them, 3 babies, 5 babies, and 1 baby, respectively, passed the NHS at birth. Comprehensive audiological assessments in the 9 babies at 3 months identified 1 with slight hearing loss and 2 with mild hearing loss. NGS for common deafness-associated mutations may identify infants with slight/mild or potentially progressive hearing impairment, thus compensating for the inherent limitations of the conventional UNHS. ? 2011 Wu et al.
SDGs
Other Subjects
adenine; guanine; mitochondrial RNA; RNA 12S; allele; article; audiometry; controlled study; disease severity; distortion product otoacoustic emission; ethnic group; female; gene; gene deletion; gene mutation; genetic association; genetic screening; GJB2 gene; hearing impairment; heterozygote; homozygote; human; infant; major clinical study; male; mutational analysis; newborn; newborn screening; population research; SLC26A4 gene; Taiwanese; tertiary health care; DNA denaturation; fluorescence resonance energy transfer; genetics; genotype; hearing impairment; hearing loss; hearing test; hospital; hospital discharge; methodology; Audiometry; Deafness; Fluorescence Resonance Energy Transfer; Genetic Testing; Genotype; Hearing Loss; Hearing Tests; Heterozygote; Hospitals; Humans; Infant, Newborn; Neonatal Screening; Nucleic Acid Denaturation; Patient Discharge
Type
journal article