scholarly journals Multi-Center in-Depth Screening of Neonatal Deafness Genes: Zhejiang, China

2021 ◽  
Vol 12 ◽  
Author(s):  
Luhang Cai ◽  
Ya Liu ◽  
Yaping Xu ◽  
Hang Yang ◽  
Lihui Lv ◽  
...  
Keyword(s):  
High Risk ◽  
Genetic Screening ◽  
Gene Mutations ◽  
Hearing Screening ◽  
Common Mutation ◽  
Multi Centre Study ◽  
High Risk Factors ◽  
Pathogenic Variants ◽  
Deafness Gene ◽  
Positive Rate

PurposeThe conventional genetic screening for deafness involves 9–20 variants from four genes. This study expands screening to analyze the mutation types and frequency of hereditary deafness genes in Zhejiang, China, and explore the significance of in-depth deafness genetic screening in newborns.MethodsThis was a multi-centre study conducted in 5,120 newborns from 12 major hospitals in the East-West (including mountains and islands) of Zhejiang Province. Concurrent hearing and genetic screening was performed. For genetic testing, 159 variants of 22 genes were screened, including CDH23, COL11A1, DFNA5, DFNB59, DSPP, GJB2, GJB3, KCNJ10, MT-RNR1, MT-TL1, MT-TS1, MYO15A, MYO7A, OTOF, PCDH15, SLC26A4, SOX10, TCOF1, TMC1, USH1G, WFS1, and WHRN using next-generation sequencing. Newborns who failed to have genetic mutations or hearing screening were diagnosed audiologically at the age of 6 months.ResultsA total of 4,893 newborns (95.57%) have passed the initial hearing screening, and 7 (0.14%) have failed in repeated screening. Of these, 446 (8.71%) newborns carried at least one genetic deafness-associated variant. High-risk pathogenic variants were found in 11 newborns (0.21%) (nine homozygotes and two compound heterozygotes), and eight of these infants have passed the hearing screening. The frequency of mutations in GJB2, GJB3, SLC26A4, 12SrRNA, and TMC1 was 5.43%, 0.59%, 1.91%, 0.98%, and 0.02%, respectively. The positive rate of in-depth screening was significantly increased when compared with 20 variants in four genes of traditional testing, wherein GJB2 was increased by 97.2%, SLC26A4 by 21% and MT-RNR1 by 150%. The most common mutation variants were GJB2c.235delC and SLC26A4c.919-2A > G, followed by GJB2c.299_300delAT. Homoplasmic mutation in MT-RNR1 was the most common, including m.1555A > G, m.961T > C, m.1095T > C. All these infants have passed routine hearing screening. The positive rate of MT-RNR1 mutation was significantly higher in newborns with high-risk factors of maternal pregnancy.ConclusionThe positive rate of deafness gene mutations in the Zhejiang region is higher than that of the database, mainly in GJB2c.235delC, SLC26A4 c.919-2A > G, and m.1555A > G variants. The expanded genetic screening in the detection rate of diseasecausing variants was significantly improved. It is helpful in identifying high-risk children for follow-up intervention.

Concurrent Hearing and Genetic Screening of 18 001 Neonates with Hearing Diagnose in Nantong, China

2021 ◽  
Author(s):  
Jianhua Chen ◽  
Qingwen Zhu ◽  
Jingyu Li ◽  
Jing Wang ◽  
Wenjun Bian ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Early Detection ◽  
Genetic Screening ◽  
Late Onset ◽  
Gene Mutations ◽  
Hearing Screening ◽  
12S Rrna ◽  
Drug Induced ◽  
Dna Test ◽  
Deafness Gene

Abstract Objectives: Concurrent hearing and genetic screening of newborns is expected to play an important role in the early detection and diagnosis of congenital deafness, which triggers an intervention, as well as in predicting late-onset and progressive hearing loss and identifying individuals who are at risk of drug-induced hearing loss (HL).Methods: A Deafness Gene Variant Detection Array Kit covering fifteen variants in four genes was used to screen for deafness genes in 18001 infants.Results: A total of 108 neonates did not pass the second hearing screening. In addition, 912 (5.07%) screened positive for deafness-associated variants, including 78 (0.43%) genetically referred and 834 (4.63%) genetic deafness-associated variant carriers. Of the 912 screened positive cases, 880 passed the hearing screening, and 32 failed. A total of 62 (0.34%) cases carried the mtDNA 12S rRNA variants. A total of 108 cases did not pass the hearing screening and underwent a hearing diagnostic examination. An expanded DNA test identified 17 patients who possessed deafness gene mutations, increasing the detection rate to 5.16%.Conclusion: Early detection, diagnosis, and interventions are necessary for newborns who are susceptible to deafness. A good strategy is to use a small panel to quickly screen all subjects and then apply an extended panel to study the cause of deafness in affected patients.

scholarly journals Concurrent Hearing and Genetic Screening among Newborns in Ningbo, China

2022 ◽  
Vol 2022 ◽  
pp. 1-8
Author(s):  
Cao Guomei ◽  
Zhang Luyan ◽  
Dai Lingling ◽  
Huang Chunhong ◽  
Chen Shan
Keyword(s):  
Carrier Frequency ◽  
Genetic Variants ◽  
Genetic Screening ◽  
Gene Mutations ◽  
Hearing Screening ◽  
Screening Tests ◽  
Genomic Epidemiology ◽  
Deafness Gene ◽  
Hearing Test ◽  
Insight Into

Objective. To detect the carrier rates of deafness gene variants in populations in Ningbo and analyze the risk of hereditary hearing loss through concurrent hearing and genetic screening tests. Methods. Two thousand one hundred and seventy-four newborns were enrolled from November 2018 to August 2019. All subjects underwent hearing screening and newborn deafness genetic screening with 15 variants in 4 genes, and the positive sites were simultaneously verified by sequencing. Results. The total carrier rate of genetic variants in Ningbo reached 4.32%, when GJB2 c.235delC was the variant with the highest prevalence (2.12%), approximately accounting for 48.9% of the total carrier frequency. The carrier frequency of SLC26A4 c.919-2A>G was 0.87%, while the most common variant in mitochondrial DNA (mtDNA) MT-RNR1 gene was m.1555A>G, and its carrier frequency was 0.184%. In the OAE testing, 92 newborns passing hearing screening were tested positively for variants in 4 genes, and 2 of 42 newborns who failed in the first hearing test were found to mutate in 4 genes. Conclusion. Herein, the results concerning the carrier rates for deafness gene mutations of Ningbo population are reported. Our study is beneficial to the insight into the deafness genomic epidemiology for deafness genes in Ningbo population and provides the reference for healthcare in Ningbo.

scholarly journals On the Correlation Between Examination Day and the Referral Rate of Secondary Hearing Screening Among Non-High-Risk Newborns

2021 ◽  
Vol In Press (In Press) ◽  
Author(s):  
Mingrong Nie ◽  
Qingxiang Zeng ◽  
Renzhong Luo ◽  
Shengbao Yan ◽  
Wenlong Liu
Keyword(s):  
Risk Factors ◽  
High Risk ◽  
Otoacoustic Emissions ◽  
False Positive Rate ◽  
Auditory Brainstem ◽  
Referral Rate ◽  
Hearing Screening ◽  
High Risk Factors ◽  
Positive Rate ◽  
Brainstem Response

Background: Otoacoustic emissions (OAEs) and auto-auditory brainstem response (AABR), as two safe and equally accurate techniques, are used for hearing screening among newborns. However, the screening time of such tests is under debate. Objectives: The present study aimed to assess the correlation between examination day and the referral rate of secondary hearing screening among non-high-risk newborns. Methods: A retrospective review of secondary hearing screen data collected from June 2012 to June 2019 was conducted on infants who had no confirmed risk factors introduced by the Joint Committee of Infant Hearing 2007 (JCIH). Results: Of the 2493 newborns included in this study, 2129 cases (85.4%) passed the test bilaterally, and 364 newborns (14.6%) failed the examination. The referral rate of the 1366 newborns taking OAE was 13.1%. Among 1127 newborns taking both OAE and AABR, the referral rate was 16.5%. Moreover, the referral rate of the OAE and OAE+AABR techniques was the lowest in the 42-56-day group. Conclusions: All newborns with no high-risk factors should be screened for hearing as such we recommend 42 - 56 days after birth as the best re-examination period to reduce the false positive rate and caregivers' anxiety.

scholarly journals The occurrence of high-risk factors for hearing loss in verylow- birth-weight neonates: A retrospective exploratory study of targeted hearing screening

2012 ◽  
Vol 59 (1) ◽  
Author(s):  
Amisha Kanji ◽  
Katijah Khoza-Shangase
Keyword(s):  
Risk Factors ◽  
South Africa ◽  
Hearing Loss ◽  
Birth Weight ◽  
High Risk ◽  
Very Low Birth Weight ◽  
Hearing Screening ◽  
Design Data ◽  
High Risk Factors ◽  
Universal Newborn Hearing Screening

The current study aimed at determining the type and frequency of high-risk factors for hearing loss in a group of very-low-birth-weight (VLBW) neonates in a tertiary hospital in South Africa with the objective of collating evidence that could be used in arguing for or against revisiting targeted hearing screening in developing countries. Furthermore, the study aimed at investigating the relationship between the identified high-risk factors and hearing screening results. In a retrospective data review design, data were collated from files from the VLBW project; this included hearing screening records, as well as records from participant medical and audiology files. Records of 86 neonates with birth weights ranging between 680 g and 1 500 g were reviewed. Findings indicated that neonatal jaundice, exposure to human immunodeficiency virus (HIV), mechanical or assisted ventilation, and neonatal intensive care unit stay greater than 48 hours were the most frequently occurring high-risk factors for hearing loss in the current sample. These factors are consistent with those listed in the high-risk register of the Health Professions Council of South Africa for the South African context. Findings confirm the complexity of risk factors, and the influence that a variety of factors such as poor follow-up or return rate might have on the implementation of early hearing detection and intervention. The importance of establishing context-specific risk factors for effective implementation of targeted screening protocols where universal newborn hearing screening is not yet a reality was highlighted by the current study.

scholarly journals A multicenter study assessing the prevalence of germline genetic alterations in Chinese gastric cancer patients

2020 ◽  
Author(s):  
Yinjie Zhang ◽  
Yang Yang ◽  
Qing Wei ◽  
Ting Xu ◽  
Xiaotian Zhang ◽  
...  
Keyword(s):  
Risk Factors ◽  
Gastric Cancer ◽  
High Risk ◽  
Gene Mutations ◽  
Genetic Alterations ◽  
Chinese Patients ◽  
Germline Variants ◽  
High Risk Factors ◽  
Uncertain Significance ◽  
Gastric Cancer Patients

Abstract Background: Approximately 10% of patients with gastric cancer (GC) have a genetic predisposition for the disease. To date, knowledge regarding germline mutations in predisposing genes in the Chinese GC population is scarce. The aim of this study was to determine the spectrum and distribution of predisposing gene mutations among Chinese GC patients known to have hereditary high-risk factors for cancer. Methods: Forty patients from among ten families were recruited from seven medical institutions in China. Next-generation sequencing was performed on 171 genes associated with cancer predisposition. For probands with pathogenic/likely pathogenic germline variants, Sanger sequencing was used to validate the variants in the probands and their relatives. Results: Sequencing indicated that 25% (10/40) of the patients carried a combined total of ten pathogenic or likely pathogenic germline variants involving nine different genes: CDH1 (n = 1), MLH1 (n = 1), MSH2 (n = 1), CHEK2 (n = 1), BLM (n = 1), EXT2 (n = 1), PALB2 (n = 1), ERCC2 (n = 1), and SPINK1 (n = 2). Five of these variants have not previously been reported. In addition, a total of 129 variants of uncertain significance were identified in 27 patients. Conclusions: This study found that 25% of Chinese GC patients with hereditary high-risk factors have deleterious germline alterations. This result may indicate a unique genetic background of GC among Chinese patients.

scholarly journals Concurrent Newborn Hearing and Genetic Screening in a Multi-Ethnic Population in South China

2021 ◽  
Vol 9 ◽  
Author(s):  
Xiangrong Tang ◽  
Lihua Liu ◽  
Sulan Liang ◽  
Meie Liang ◽  
Tao Liao ◽  
...  
Keyword(s):  
Hearing Loss ◽  
South China ◽  
Genetic Screening ◽  
Hearing Screening ◽  
Ethnic Population ◽  
Pathogenic Variants ◽  
Minority Ethnic Groups ◽  
Significant Difference ◽  
Newborn Hearing ◽  
Minority Ethnic

Hearing loss is a common sensory deficit in humans with intricate genomic landscape and mutational signature. Approximately 1–3 out of 1,000 newborns have hearing loss and up to 60% of these cases have a genetic etiology. In this study, we conducted the concurrent newborn hearing and genetic screening in 20 mutations (18 pathogenic variants in GJB2, SLC26A4, and MT-RNR1 and 2 uncertain clinical significance variants in GJB3) for 9,506 normal newborns (4,977 [52.4%] males) from 22 ethnic population in South China. A total of 1,079 (11.4%) newborns failed to pass the initial hearing screening; 160 (1.7%) infants failed to pass the re-screening, and 135 (1.4%) infants presented the diagnostic hearing loss. For the genetic screening, 220 (2.3%) newborns who presented at least one of the screened mutations were more likely to fail the hearing screening and have diagnostic hearing loss than mutation-negative newborns. In comparison to the differences of distribution of mutations, we did not identify any significant difference in the prevalence of screened mutations between Han group (n = 5,265) and Zhuang group (n = 3,464), despite the lack of number of minority ethnic groups. Studies including larger number of minority ethnic populations are needed in the future.

scholarly journals A multicenter study assessing the prevalence of germline genetic alterations in Chinese gastric cancer patients

2019 ◽  
Author(s):  
Yinjie Zhang ◽  
Yang Yang ◽  
Qing Wei ◽  
Ting Xu ◽  
Xiaotian Zhang ◽  
...  
Keyword(s):  
Risk Factors ◽  
Gastric Cancer ◽  
High Risk ◽  
Gene Mutations ◽  
Genetic Alterations ◽  
Chinese Patients ◽  
Germline Variants ◽  
High Risk Factors ◽  
Uncertain Significance ◽  
Gastric Cancer Patients

Abstract BackgroundApproximately 10% of patients with gastric cancer (GC) have a genetic predisposition for the disease. To date, knowledge regarding germline mutations in predisposing genes in the Chinese GC population is scarce. The aim of this study was to determine the spectrum and distribution of predisposing gene mutations among Chinese GC patients known to have hereditary high-risk factors for cancer. Forty patients from among ten families were recruited from seven medical institutions in China. Next-generation sequencing was performed on 171 genes associated with cancer predisposition. For probands with pathogenic/likely pathogenic germline variants, Sanger sequencing was used to validate the variants in the probands and their relatives.ResultsSequencing indicated that 25% (10/40) of the patients carried a combined total of ten pathogenic or likely pathogenic germline variants involving nine different genes: CDH1 (n = 1), MLH1 (n = 1), MSH2 (n = 1), CHEK2 (n = 1), BLM (n = 1), EXT2 (n = 1), PALB2 (n = 1), ERCC2 (n = 1), and SPINK1 (n = 2). Five of these variants have not previously been reported. In addition, a total of 129 variants of uncertain significance were identified in 27 patients.ConclusionsThis study found that 25% of Chinese GC patients with hereditary high-risk factors have deleterious germline alterations. This result may indicate a unique genetic background of GC among Chinese patients.

scholarly journals A prospective study for hearing screening of 4356 newborns by transient evoked oto-acoustic emissions and brainstem evoked response audiometry: a study of high risk factors for hearing loss

2017 ◽  
Vol 5 (4) ◽  
pp. 1554 ◽  
Author(s):  
Pradeep Kumar Singh ◽  
Nishant Kumar ◽  
Dheeraj Kumar ◽  
Nisha Shrivastava ◽  
Abhishek Kumar
Keyword(s):  
Risk Factors ◽  
Hearing Loss ◽  
High Risk ◽  
Prospective Study ◽  
Acoustic Emissions ◽  
Hearing Screening ◽  
Evoked Response ◽  
Brainstem Evoked Response Audiometry ◽  
High Risk Factors ◽  
Evoked Response Audiometry

Background: A child’s normal speech and language development depends on the ability to hear. Early detection of hearing loss by screening at or shortly after birth and appropriate intervention are critical to speech, language and cognitive development. Objectives were to describe socio-epidemiological profile of newborns for hearing loss screening by transient evoked oto-acoustic emissions (TEOAE) and brainstem evoked response audiometry (BERA) in Rajendra Institute of Medical Sciences (RIMS), Ranchi, Jharkhand, India during 18 months period (June 2015- November 2016), and to study association between hearing loss and risk factors.Methods: This prospective study was done on 4356 newborns for hearing screening by TEOAE in maternity ward and NICU and BERA in those noted “refer” on retest TEOAE at RIMS, Ranchi, Jharkhand, India during the period of 18 months (June 2015 - November 2016). Follow- up done by visits and phone calls. Templates were generated in MS excel sheet and data analysis was done using SPSS software (version 20).Results: Study showed 3.90/1000 newborns were noted “refer” on retest TEOAE. Hearing loss (BERA- Fail) is slightly more common in males (2.20/1000 newborns), of rural areas (2.44/1000 newborns), tribal ethnicity (2.75/1000  newborns) and those delivered by lower section caesarean section (LSCS) (4.47/1000 newborns). Hearing loss noted in 2.07/1000 newborns. Among high risk newborns 21.41/1000 newborns were noted “refer” on retest TEOAE and 11.53 were found BERA fail.Conclusions: Hearing loss was 21.71 times more common in newborns associated with high risk factors, mainly low birth weight and preterm newborns.

Deafness Gene Mutations in Newborns in the Foshan Area of South China With Bloodspot-Based Genetic Screening Tests

2020 ◽  
Vol 29 (2) ◽  
pp. 165-169
Author(s):  
Shunwang Cao ◽  
Yanhua Sha ◽  
Peifeng Ke ◽  
Tingting Li ◽  
Weixi Yuan ◽  
...  
Keyword(s):  
Gene Mutation ◽  
South China ◽  
Genetic Screening ◽  
Gene Mutations ◽  
Screening Tests ◽  
Premature Delivery ◽  
12S Rrna ◽  
High Birth Weight ◽  
Congenital Hearing Loss ◽  
Deafness Gene

Purpose The aim of this study was to determine the rate of deafness gene mutations in the Foshan area of South China. Method We enrolled the infants delivered in Foshan Maternity and Children's Healthcare Hospital. Deafness gene mutation was detected by HibriMax method. Our study tested 47,538 newborns within 3 days after birth, including 13 sites in four genes: GJB2 (c.35 del G, c.176 del 16, c.235 del C, c.299 del AT, c.155 del TCTG), GJB3 (c.583 C>T), SLC26A4 (c.2168 A>G, c.919-2 A>G, c.1299 C>T), and mtDNA 12S rRNA (m.1555 A>G, m.1494 C>T, m.12201 T>C, m.7445 A>G). The birth condition of infants was collected, including sex, low or high birth weight, twins, and premature delivery. Results In a total of 47,538 newborns, 1,415 were positively identified with deafness gene mutations. The total rate of the deafness gene mutation was 2.976%. The carrier rates of GJB2 (c.35 del G, c.176 del 16, c.235 del C, c.299 del AT, c.155 del TCTG), GJB3 (c.583 C>T), SLC26A4 (c.2168 A>G, c.919-2 A>G, c.1299 C>T), and mtDNA 12S rRNA (m.1555 A>G, m.1494 C>T, m.12201 T>C, m.7445 A>G) mutations were 0.000%, 0.048%, 1.422%, 0.185%, 0.000%, 0.076%, 0.116%, 0.755%, 0.160%, 0.187%, 0.021%, 0.000%, and 0.006%, respectively. Conclusions Our study showed that the c.235 del C GJB2 mutation was the leading deafness-related mutation in the Foshan area of South China. Deafness gene mutations screening in newborns detected by bloodspot-based genetic screening tests can help the diagnosis of newborn congenital hearing loss.

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