Hearing Screening Combined with Target Gene Panel Testing Increased Etiological Diagnostic Yield in Deaf Children

Xie, Le; Qiu, Yue; Yuan, Jing; Xu, Kai; Bai, Xue; Liu, Xiaozhou; Wang, Xiaohui; Chen, Sen; Sun, Yu

doi:10.1155/2021/6151973

Cited by 11 publications

(8 citation statements)

References 21 publications

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“…In this study, we performed exome sequencing analysis for 351 affected individuals with hearing loss. Among the identified causal genes, variants in GJB2 and SLC26A4 were most frequently identified in this cohort, which is similar to previous reports ( Fu et al, 2019 ; Xie et al, 2021 ). Here, we reported the identification of four novel variants in the CDH23 gene ( Table 1 ), which significantly expanded the mutation spectrum of CDH23 -associated non-syndromic autosomal recessive deafness.…”

Section: Discussionsupporting

confidence: 91%

Identification of four novel variants in the CDH23 gene from four affected families with hearing loss

Kang

Lu²,

Xiong³

et al. 2022

Front. Genet.

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Background: Hearing loss (HL) is the most common form of sensory disorder in humans. Molecular diagnosis of HL is important for genetic counseling for the affected individuals and their families.Methods: To identify potential genetic causes, we performed whole-exome sequencing and related biomedical informatics for 351 non-syndromic HL patients and their family members.Results: In the present study, we report the identification of four compound heterozygous variants in the CDH23 gene from four affected families, including four novel variants (c.995C>A, p.T332K; c.2159G>A, p.R720Q; c.5534A>G, p.N1845S, and c.7055-1G>C) and two frequently reported variants (c.719C>T, p.P240L and c.4762C>T, p.R1588W).Conclusion: Our findings significantly expanded the mutation spectrum of CDH23-associated autosomal recessive hearing loss.

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Section: Discussionsupporting

confidence: 91%

Identification of four novel variants in the CDH23 gene from four affected families with hearing loss

Kang

Lu²,

Xiong³

et al. 2022

Front. Genet.

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“…Exome sequencing presented an advantage in the early diagnosis of hearing loss 12 , 18 , 40 , 41 and of other genetic disorders. 42 , 43 , 44 , 45 , 46 However, the high cost and long turnaround time limit the applicability of newborn genetic screening.…”

Section: Discussionmentioning

confidence: 99%

“… 7 Previous studies have shown that approximately 25% of cases of hearing loss are missed by existing newborn hearing screening (NBHS) programs, wherein two-thirds receive a diagnosis of severe to profound hearing loss later. 11 , 12 Previous studies have indicated that hearing loss among newborns in the NICU was associated not only with clinical risk factors, such as cytomegalovirus infection, craniofacial malformation, family history of hearing loss, duration of NICU stay, oxygen exposure, or low birth weight, 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 but also with genetic disorders, which have been shown with the wider use of genetic testing to be associated with hearing loss. 21 Microarray or limited genomic sequencing were used in screening for underlying hearing loss in the general neonatal population because of its low cost.…”

Section: Introductionmentioning

confidence: 99%

Association Between Expanded Genomic Sequencing Combined With Hearing Screening and Detection of Hearing Loss Among Newborns in a Neonatal Intensive Care Unit

Zhu

Yang

et al. 2022

JAMA Netw Open

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Key Points Question Is expanded genomic sequencing combined with hearing screening associated with the detection of hearing loss and the improvement in the clinical management of patients in the neonatal intensive care unit (NICU)? Findings In this cohort study that included 8078 patients in the NICU, expanded genomic sequencing was associated with a 15.6% increase in cases of diagnosed hearing loss that were missed by hearing screening and changed the clinical management strategies of these patients. Of 52 patients with a diagnosis of hearing loss, 39 (75%) had genetic findings and experienced a more severe degree of hearing loss. Meaning This study suggests that expanded genomic sequencing combined with hearing screening may be effective for diagnosing hearing loss in the NICU setting.

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“…In European countries, many people are affected; they possess a pathogenic variation in GJB2 gene coding region with several deletions. Deletion can either be in a homozygous state or heterozygous and impairs transcriptional level gene expression by excluding regulatory factors preceding the GJB2 gene [48,49].…”

Section: Approved Galley Proofmentioning

confidence: 99%

Analysis of Serum Inflammatory Markers in Infants Under 6 Months of Age with Non-Syndromic Moderate and Severe Hearing Loss Associated with GJB2 Gene Mutations

Zhang¹,

Zheng³

et al. 2022

Med Sci Monit

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Background:The GJB2 gene is reported to be the main hereditary factor responsible for non-syndromic hearing impairment in infants. Several kinds of hearing loss have been linked to elevated inflammatory markers. This study aimed to evaluate serum levels of IL-2, IL-4, IL-6, IL-10, IL-17, a-TNF, and g-IFN and the severity of hearing loss. Material/Methods:Ninety newborns were divided into 3 groups: severe hearing impairment (31 infants), moderate hearing impairment (30 infants), and normal hearing (29 infants). Hearing screening was performed using otoacoustic emissions test. Mutations of the GJB2 gene were detected with Sanger sequencing. The patients had DNFB1 mutation. Seven blood inflammatory markers were tested using Cytometric Bead Array. We performed the t test to examine differences in expression of 7 inflammatory markers between sexes in the groups. The correlation between indicators within groups was studied using the Pearson correlation test. Correlation of different indicators among groups was studied using the Spearman correlation test. Results:When compared among the 3 groups (severe, moderate hearing impairment, and normal hearing group), we found that IL-10 had a positive correlation with the severity of GJB2-associated hearing loss, which was statistically significant (P<0.05). Conclusions:This research aimed to assess the relationship of 7 serum inflammatory markers with GJB2-associated hearing loss in infants. Inflammatory marker IL-10 had a positive correlation with the severity of GJB2-associated infant hearing loss, and it might have the potential to become a future therapeutic target.

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Hearing Screening Combined with Target Gene Panel Testing Increased Etiological Diagnostic Yield in Deaf Children

Cited by 11 publications

References 21 publications

Identification of four novel variants in the CDH23 gene from four affected families with hearing loss

Identification of four novel variants in the CDH23 gene from four affected families with hearing loss

Association Between Expanded Genomic Sequencing Combined With Hearing Screening and Detection of Hearing Loss Among Newborns in a Neonatal Intensive Care Unit

Analysis of Serum Inflammatory Markers in Infants Under 6 Months of Age with Non-Syndromic Moderate and Severe Hearing Loss Associated with GJB2 Gene Mutations

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