Next-generation sequencing identifies three novel missense variants in ILDR1 and MYO6 genes in an Iranian family with hearing loss with review of the literature

2017 ◽  
Vol 103 ◽  
pp. 103-108 ◽  
Author(s):  
Farah Talebi ◽  
Farideh Ghanbari Mardasi ◽  
Javad Mohammadi Asl ◽  
Masoomeh Sayahi
Keyword(s):  
Hearing Loss ◽  
Next Generation Sequencing ◽  
Next Generation ◽  
Review Of The Literature ◽  
Missense Variants ◽  
Iranian Family ◽  
Generation Sequencing

scholarly journals Novel GRHL2 Gene Variant Associated with Hearing Loss: A Case Report and Review of the Literature

Genes ◽  
2021 ◽  
Vol 12 (4) ◽  
pp. 484
Author(s):  
Katarina Trebusak Podkrajsek ◽  
Tine Tesovnik ◽  
Nina Bozanic Urbancic ◽  
Saba Battelino
Keyword(s):  
Hearing Loss ◽  
Next Generation Sequencing ◽  
Clinical Characteristics ◽  
Late Onset ◽  
Next Generation ◽  
Review Of The Literature ◽  
The Family ◽  
Recessive Form ◽  
Crucial Part ◽  
Generation Sequencing

In contrast to the recessive form, hearing loss inherited in a dominant manner is more often post-lingual and typically results in a progressive sensorineural hearing loss with variable severity and late onset. Variants in the GRHL2 gene are an extremely rare cause of dominantly inherited hearing loss. Genetic testing is a crucial part of the identification of the etiology of hearing loss in individual patients, especially when performed with next-generation sequencing, enabling simultaneous analysis of numerous genes, including those rarely associated with hearing loss. We aimed to evaluate the genetic etiology of hearing loss in a family with moderate late-onset hearing loss using next-generation sequencing and to conduct a review of reported variants in the GRHL2 gene. We identified a novel disease-causing variant in the GRHL2 gene (NM_024915: c.1510C>T; p.Arg504Ter) in both affected members of the family. They both presented with moderate late-onset hearing loss with no additional clinical characteristics. Reviewing known GRHL2 variants associated with hearing loss, we can conclude that they are more likely to be truncating variants, while the associated onset of hearing loss is variable.

Identification of a novel missence mutation in FGFR3 gene in an Iranian family with LADD syndrome by Next-Generation Sequencing

2017 ◽  
Vol 97 ◽  
pp. 192-196 ◽  
Author(s):  
Farah Talebi ◽  
Farideh Ghanbari Mardasi ◽  
Javad Mohammadi Asl ◽  
Amir Hooshang Bavarsad ◽  
Saeed Tizno
Keyword(s):  
Next Generation Sequencing ◽  
Next Generation ◽  
Fgfr3 Gene ◽  
Iranian Family ◽  
Ladd Syndrome ◽  
Generation Sequencing

scholarly journals A Novel Heterozygous Mutation of the COL4A3 Gene Causes a Peculiar Phenotype without Hematuria and Renal Function Impairment in a Chinese Family

2019 ◽  
Vol 2019 ◽  
pp. 1-8 ◽  
Author(s):  
Liang Xia ◽  
Yangjia Cao ◽  
Yang Guo ◽  
Guangyi Ba ◽  
Qiong Luo ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Next Generation Sequencing ◽  
Collagen Iv ◽  
Chinese Family ◽  
Heterozygous Mutation ◽  
Next Generation ◽  
Structural Protein ◽  
Type Iv ◽  
Function Impairment ◽  
Generation Sequencing

Mutations in the COL4A3 gene are frequently reported to be associated with various types of hereditary nephropathy. COL4A3 encodes the α3 chain of type IV collagen, which is the main structural protein in the basement membrane. Mutations in this gene are always related to kidney performance, and deafness and ocular lesion have also been reported. In this study, using next-generation sequencing, we investigated the DNA of a family visiting a clinic for hearing loss. A new missense mutation was found in COL4A3 of 5 patients, c.3227C>T (p.P1076L). Based on these results, we predict that the mutation is pathogenic and leads to abnormal collagen IV. Here, we report for the first time on this autosomal dominant syndrome, characterized by hearing loss and eye abnormalities, but without renal damage, in all carriers. Since the oldest patient in the trial was less than 50 years old, however, we recommend that renal examination be reviewed regularly. Our results reveal expansion in the mutation spectrum of the COL4A3 gene and phenotypic spectrum of collagen IV disease. Our study suggests that next-generation sequencing is an economical and effective method and may help in the accurate diagnosis and treatment of these patients.

scholarly journals Development and Validation of a Next-Generation Sequencing Panel for Syndromic and Nonsyndromic Hearing Loss

2020 ◽  
Vol 5 (3) ◽  
pp. 467-479 ◽  
Author(s):  
Malinda Butz ◽  
Amber McDonald ◽  
Patrick A Lundquist ◽  
Melanie Meyer ◽  
Sean Harrington ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Next Generation Sequencing ◽  
Copy Number Variants ◽  
Analytical Sensitivity ◽  
Nonsyndromic Hearing Loss ◽  
Next Generation ◽  
Single Nucleotide Variants ◽  
Small Indels ◽  
Syndromic Hearing Loss ◽  
Generation Sequencing

Abstract Background Deafness and hearing loss are common conditions that can be seen independently or as part of a syndrome and are often mediated by genetic causes. We sought to develop and validate a hereditary hearing loss panel (HHLP) to detect single nucleotide variants (SNVs), insertions and deletions (indels), and copy number variants (CNVs) in 166 genes related to nonsyndromic and syndromic hearing loss. Methods We developed a custom-capture next-generation sequencing (NGS) reagent to detect all coding regions, ±10 flanking bp, for the 166 genes related to nonsyndromic and syndromic hearing loss. Our validation consisted of testing 52 samples to establish accuracy, reproducibility, and analytical sensitivity. In addition to NGS, supplementary methods, including multiplex ligation-dependent probe amplification, long-range PCR, and Sanger sequencing, were used to ensure coverage of regions that had high complexity or homology. Results We observed 100% positive and negative percentage agreement for detection of SNVs (n = 362), small indels (1–22 bp, n = 25), and CNVs (gains, n = 8; losses, n = 17). Finally, we showed that this assay was able to detect variants with a variant allele frequency ≥20% for SNVs and indels and ≥30% to 35% for CNVs. Conclusions We validated an HHLP that detects SNVs, indels, and CNVs in 166 genes related to syndromic and nonsyndromic hearing loss. The results of this assay can be utilized to confirm a diagnosis of hearing loss and related syndromic disorders associated with known causal genes.

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