scholarly journals Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1

2020 ◽  
Vol 98 (4) ◽  
pp. 353-364 ◽  
Author(s):  
Zippora Brownstein ◽  
Suleyman Gulsuner ◽  
Tom Walsh ◽  
Fábio T.A. Martins ◽  
Shahar Taiber ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Jewish Population ◽  
The Novel ◽  
Deafness Gene

scholarly journals A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans

2021 ◽  
Author(s):  
Barbara Vona ◽  
Neda Mazaheri ◽  
Sheng-Jia Lin ◽  
Lucy A. Dunbar ◽  
Reza Maroofian ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Amino Acid ◽  
Rna Splicing ◽  
Stop Codon ◽  
Missense Variant ◽  
Homozygosity Mapping ◽  
Deafness Gene ◽  
Expression Studies ◽  
Hearing Function

AbstractDeafness, the most frequent sensory deficit in humans, is extremely heterogeneous with hundreds of genes involved. Clinical and genetic analyses of an extended consanguineous family with pre-lingual, moderate-to-profound autosomal recessive sensorineural hearing loss, allowed us to identify CLRN2, encoding a tetraspan protein, as a new deafness gene. Homozygosity mapping followed by exome sequencing identified a 14.96 Mb locus on chromosome 4p15.32p15.1 containing a likely pathogenic missense variant in CLRN2 (c.494C > A, NM_001079827.2) segregating with the disease. Using in vitro RNA splicing analysis, we show that the CLRN2 c.494C > A variant leads to two events: (1) the substitution of a highly conserved threonine (uncharged amino acid) to lysine (charged amino acid) at position 165, p.(Thr165Lys), and (2) aberrant splicing, with the retention of intron 2 resulting in a stop codon after 26 additional amino acids, p.(Gly146Lysfs*26). Expression studies and phenotyping of newly produced zebrafish and mouse models deficient for clarin 2 further confirm that clarin 2, expressed in the inner ear hair cells, is essential for normal organization and maintenance of the auditory hair bundles, and for hearing function. Together, our findings identify CLRN2 as a new deafness gene, which will impact future diagnosis and treatment for deaf patients.

Maternally inherited hearing loss is associated with the novel mitochondrial tRNASer(UCN) 7505T>C mutation in a Han Chinese family

2010 ◽  
Vol 100 (1) ◽  
pp. 57-64 ◽  
Author(s):  
Xiaowen Tang ◽  
Ronghua Li ◽  
Jing Zheng ◽  
Qin Cai ◽  
Ting Zhang ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Han Chinese ◽  
Chinese Family ◽  
The Novel

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 Targeted Next-Generation Sequencing of a Deafness Gene Panel (MiamiOtoGenes) Analysis in Families Unsuitable for Linkage Analysis

2018 ◽  
Vol 2018 ◽  
pp. 1-7 ◽  
Author(s):  
Haiqiong Shang ◽  
Denise Yan ◽  
Naeimeh Tayebi ◽  
Kolsoum Saeidi ◽  
Afsaneh Sahebalzamani ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Linkage Analysis ◽  
Autosomal Recessive ◽  
Target Sequence ◽  
Novel Mutations ◽  
Nonsyndromic Deafness ◽  
Targeted Next Generation Sequencing ◽  
Deafness Gene ◽  
Comprehensive Diagnosis ◽  
Generation Sequencing

Hearing loss (HL) is a common sensory disorder in humans with high genetic heterogeneity. To date, over 145 loci have been identified to cause nonsyndromic deafness. Furthermore, there are countless families unsuitable for the conventional linkage analysis. In the present study, we used a custom capture panel (MiamiOtoGenes) to target sequence 180 deafness-associated genes in 5 GJB2 negative deaf probands with autosomal recessive nonsyndromic HL from Iran. In these 5 families, we detected one reported and six novel mutations in 5 different deafness autosomal recessive (DFNB) genes (TRIOBP, LHFPL5, CDH23, PCDH15, and MYO7A). The custom capture panel in our study provided an efficient and comprehensive diagnosis for known deafness genes in small families.

scholarly journals Post-lingual non-syndromic hearing loss phenotype: a novel homozygous missense mutation in MITF

2019 ◽  
Author(s):  
Athar Khalil ◽  
Samer Bou Karroum ◽  
Rana Barake ◽  
Gabriel Dunya ◽  
Samer Abou-Rizk ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Exome Sequencing ◽  
Missense Mutation ◽  
The Novel ◽  
Single Nucleotide Variants ◽  
Single Nucleotide ◽  
Whole Exome ◽  
Genetic Hearing Loss ◽  
Syndromic Hearing Loss ◽  
And Function

Abstract Background Hearing loss (HL) represents the most common congenital sensory impairment with an incidence of 1-5 per 1000 live births. Non-syndromic hearing loss (NSHL) is an isolated finding that is not part of any other disorder accounting for 70% of all genetic hearing loss cases. Methods In the current study, we report a multifactorial genetic mode of inheritance in a NSHL consanguineous family using exome sequencing technology. We evaluated the possible effects of the single nucleotide variants (SNVs) detected in our patients using in silico methods. Results Two bi-allelic SNVs were detected in the affected patients; a MYO15A (. p.V485A) variant, and a novel MITF (p.P338L) variant. Along with these homozygous mutations, we detected two heterozygous variants in well described hearing loss genes (MYO7A and MYH14). The novel p. Pro338Leu missense mutation on the MITF protein was predicted to change the protein structure and function. Conclusion The novel MITF variant is the first bi-allelic SNV in this gene to be associated with an autosomal recessive non-syndromic HL case with a post-lingual onset. Our findings highlight the importance of whole exome sequencing for a comprehensive assessment of the genetic heterogeneity of HL.

Occupational morbidity in the Samara Region and its dynamics in the context of the pandemic of the novel coronavirus infection COVID-19

2021 ◽  
pp. 7-11
Author(s):  
S.A. Babanov
Keyword(s):  
Hearing Loss ◽  
Infectious Diseases ◽  
Sensorineural Hearing Loss ◽  
Lung Diseases ◽  
Occupational Diseases ◽  
The Novel ◽  
Occupational Infectious Diseases ◽  
Coronavirus Infection ◽  
Novel Coronavirus ◽  
Occupational Allergies

The indicators of occupational morbidity in the Samara Region and its dynamics in the context of the pandemic of the novel coronavirus infection COVID-19 are presented. In 2020, out of 127 acute and chronic occupational diseases diagnosed in 11 months, 22.05 % (28 cases) were diagnosed with professional sensorineural hearing loss, 5.51 % (7 cases) with dust lung diseases, 5.51 % (7 cases) — atrophic rhinopharyngolaryngitis, in 3.94 % (5 cases) — occupational allergies in the form of occupational bronchial asthma and eczema, in 3.94 % (5 cases) — vibration disease, in 1.57 % (2 cases) — chronic occupational radiculopathy, in 0.79 % (1 case) — oncological occupational pathology (dermatosarcoma of the hand), in 3.14 % (4 cases) — occupational infectious diseases (except for COVID-19).

scholarly journals Clue to a New Deafness Gene: A Large Chinese Nonsyndromic Hearing Loss Family Linked to DFNA4

2012 ◽  
Vol 39 (12) ◽  
pp. 653-657 ◽  
Author(s):  
Liang Zong ◽  
Chunye Lu ◽  
Yali Zhao ◽  
Qian Li ◽  
Dongyi Han ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Nonsyndromic Hearing Loss ◽  
Deafness Gene

Massively Parallel DNA Sequencing Successfully Identified Seven Families With Deafness-Associated MYO6 Mutations

2015 ◽  
Vol 124 (1_suppl) ◽  
pp. 148S-157S ◽  
Author(s):  
Maiko Miyagawa ◽  
Shin-ya Nishio ◽  
Kozo Kumakawa ◽  
Shin-ichi Usami
Keyword(s):  
Hearing Loss ◽  
Dna Sequencing ◽  
Gene Mutations ◽  
Clinical Information ◽  
Massively Parallel ◽  
Progressive Hearing Loss ◽  
Genomic Variations ◽  
Deafness Gene ◽  
Associated Symptoms ◽  
Massively Parallel Dna Sequencing

Objectives: To elucidate the involvement of MYO6 mutations, known to be responsible for DFNA22/DFNB37, in Japanese hearing loss patients through the use of genetic analysis. Methods: Genomic variations responsible for hearing loss were identified by massively parallel DNA sequencing (MPS) of 63 target candidate genes in 1120 Japanese hearing loss patients, and the detailed clinical features for the patients with MYO6 mutations were collected and analyzed. Results: Four mutations were successfully found in 7 families exhibiting autosomal dominant inheritance. All of the patients showed progressive hearing loss, but hearing type and onset age varied. Further, none of the affected patients showed any associated symptoms, such as hypertrophic cardiomyopathy or retinitis pigmentosa. Conclusions: MPS is powerful tool for the identification of rare causative deafness gene mutations, such as MYO6. The clinical characteristics noted in the present study not only confirmed the findings of previous reports but provided important new clinical information.

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