scholarly journals Mutation Screening of Exons 7 and 13 of the TMC1 Gene in Autosomal Recessive Non-syndromic Hearing Loss (ARNSHL) in Iran

2016 ◽  
Vol 18 (3) ◽  
Author(s):  
Negar Moradipour ◽  
Payam Ghasemi-Dehkordi ◽  
Fatemeh Heibati ◽  
Shahrbanuo Parchami-Barjui ◽  
Marziyeh Abolhasani ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Recessive ◽  
Mutation Screening ◽  
Syndromic Hearing Loss ◽  
Tmc1 Gene

scholarly journals High prevalence of theW24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss

2005 ◽  
Vol 137A (3) ◽  
pp. 255-258 ◽  
Author(s):  
Araceli Álvarez ◽  
Ignacio del Castillo ◽  
Manuela Villamar ◽  
Luis A. Aguirre ◽  
Anna González-Neira ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Recessive ◽  
Connexin 26 ◽  
Gene Encoding ◽  
High Prevalence ◽  
Syndromic Hearing Loss

Decreased disulphide/thiol ratio in patients with autosomal recessive non-syndromic hearing loss

2018 ◽  
Vol 112 ◽  
pp. 188-192
Author(s):  
Burhan Balta ◽  
Ramazan Gundogdu ◽  
Murat Erdogan ◽  
Murat Alisik ◽  
Aslihan Kiraz ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Recessive ◽  
Syndromic Hearing Loss

An update of common autosomal recessive non-syndromic hearing loss genes in Iranian population

2017 ◽  
Vol 97 ◽  
pp. 113-126 ◽  
Author(s):  
Tohid Ghasemnejad ◽  
Mahmoud Shekari Khaniani ◽  
Fatemeh Zarei ◽  
Mina Farbodnia ◽  
Sima Mansoori Derakhshan
Keyword(s):  
Hearing Loss ◽  
Autosomal Recessive ◽  
Iranian Population ◽  
Syndromic Hearing Loss

Whole Exome Sequencing of Six Chinese Families With Hereditary Non-Syndromic Hearing Loss: A Genetic Etiology Study

2020 ◽  
Author(s):  
Pengfei Liang ◽  
Fengping Chen ◽  
Shujuan Wang ◽  
Qiong Li ◽  
Wei Li ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Sanger Sequencing ◽  
Large Scale ◽  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Chinese Families ◽  
Whole Exome ◽  
Syndromic Hearing Loss

Abstract Background: Hereditary non-syndromic hearing loss (NSHL) has a high genetic heterogeneity with >152 genes identified as associated molecular causes. The present study aimed to detect the possible damaging variants of the deaf probands from six unrelated Chinese families.Methods: After excluding the mutations in the most common genes, GJB2 and SLC26A4, 12 probands with prelingual deafness and autosomal recessive inheritance were evaluated by whole-exome sequencing (WES). All the candidate variants were verified by Sanger sequencing in all patients and their parents.Results: Biallelic mutations were identified in all deaf patients. Among these six families, 10 potentially causative mutations, including 3 reported and 7 novel mutations, in 3 different deafness-associated autosomal recessive (DFNB) genes (MYO15A, COL11A2, and CDH23) were identified. The mutations in MYO15A were frequent with 7/10 candidate variants. Sanger sequencing confirmed that these mutations segregated with the hearing loss of each family.Conclusions: Next-generation sequencing (NGS) approach becomes more cost-effective and efficient when analyzing large-scale genes compared to the conventional polymerase chain reaction-based Sanger sequencing, which is often used to screen common deafness-related genes. The current findings further extend the mutation spectrum of hearing loss in the Chinese population, which has a positive significance for genetic counseling.

Abnormal Audiograms and Elevated Acoustic Reflex Thresholds in Obligate Carriers of Autosomal Recessive Non-Syndromic Hearing Loss

1997 ◽  
Vol 117 (3) ◽  
pp. 337-342 ◽  
Author(s):  
M. Cohen ◽  
M. Francis ◽  
R. Coffey ◽  
M. E. Pembrey ◽  
L. M. Luxon
Keyword(s):  
Hearing Loss ◽  
Autosomal Recessive ◽  
Acoustic Reflex ◽  
Syndromic Hearing Loss

Dips on Békésy or Audioscan Fail to Identify Carriers of Autosomal Recessive Non-Syndromic Hearing Loss

1996 ◽  
Vol 116 (4) ◽  
pp. 521-527 ◽  
Author(s):  
M. Cohen ◽  
M. Francis ◽  
L. M. Luxon ◽  
S. Bellman ◽  
R. Coffey ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Recessive ◽  
Syndromic Hearing Loss

scholarly journals Novel MYO15A Variants are Associated with Hearing Loss in the Two Iranian Pedigrees

2020 ◽  
Author(s):  
somayeh khatami ◽  
Masomeh Askari ◽  
Fatemeh Bahreini ◽  
Morteza Hashemzadeh Chaleshtori ◽  
Saeed Hematian ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Recessive ◽  
Genetic Diagnosis ◽  
Clinical Genetic ◽  
Clinical Evaluations ◽  
Large Size ◽  
Whole Exome ◽  
Novel Variants ◽  
Syndromic Hearing Loss ◽  
Traditional Approaches

Abstract Background: Clinical genetic diagnosis of non-syndromic hearing loss (NSHL) is quite challenging. With regard to its high heterogeneity as well as large size of some genes, it is also really difficult to detect causative mutations using traditional approaches. One of the recent technologies called whole-exome sequencing (WES) has been thus developed in this domain to remove the limitations of conventional methods.Methods: This study was a report on two unrelated pedigrees with multiple affected cases of hearing loss (HL). Accordingly, clinical evaluations and genetic analysis were performed in both families. Results: The implementation of WES to uncover autosomal recessive non-syndromic hearing loss (ARNSHL) and its related variants was reported in the present study. Two novel variants of MYO15A i.e. c.T6442A:p.W2148R and c.10504dupT:p.C3502Lfs*15 were correspondingly identified and then segregations were confirmed using Sanger sequencing. According to online prediction tools, both identified variants seemed to have damaging effects.Conclusion: This study further supported the effectiveness of WES for genetic diagnosis of ARNSHL as a first approach.

scholarly journals A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Akram Sarmadi ◽  
Samane Nasrniya ◽  
Maryam Soleimani Farsani ◽  
Sina Narrei ◽  
Zahra Nouri ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Recessive ◽  
Pathogenic Variant ◽  
Iranian Family ◽  
Syndromic Hearing Loss
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