scholarly journals Prelingual Sensorineural Hearing Loss Caused by a Novel GJB2 Dominant Mutation in a Chinese Family

2020 ◽  
Vol 2020 ◽  
pp. 1-6
Author(s):  
Shasha Huang ◽  
Xue Gao ◽  
Yufeng Wang ◽  
Dongyang Kang ◽  
Xin Zhang ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Sanger Sequencing ◽  
Pathogenic Variant ◽  
Sensorineural Hearing ◽  
Chinese Family ◽  
Dominant Mutation ◽  
Common Cause ◽  
Pathogenic Variation ◽  
Complete Physical Examination

Background. GJB2 mutation is the most common cause of genetic deafness. Many pathogenic variations have already been identified, and thus, fewer and fewer novel pathogenic variations remain to be identified. Here, we describe a novel pathogenic variation associated with dominant hereditary deafness in a Chinese family. Methods. In this study, we examined four generations of a Chinese family (M127) with hearing loss. Temporal CT scan, complete physical examination (including skin and hair), and audiological tests were performed. Targeted next-generation and Sanger sequencing were used to identify pathogenic mutations in affected individuals. Results. All patients exhibited prelingual nonsyndromic sensorineural hearing loss, with severity ranging from moderate to severe. A novel dominant pathogenic variant c.205T > C (p.Phe69Leu) was identified in all patients in this family. Conclusions. c.205T > C (p.Phe69Leu) was identified as a novel dominant pathogenic variant of GJB2 associated with prelingual nonsyndromic sensorineural hearing loss.

Novel biallelic OTOGL mutations in a Chinese family with moderate non-syndromic sensorineural hearing loss

2015 ◽  
Vol 79 (6) ◽  
pp. 817-820 ◽  
Author(s):  
Xiaodong Gu ◽  
Shan Sun ◽  
Luo Guo ◽  
Xiaoling Lu ◽  
Honglin Mei ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
Chinese Family

scholarly journals Autosomal Recessive Congenital Sensorineural Hearing Loss due to a Novel Compound Heterozygous PTPRQ Mutation in a Chinese Family

2018 ◽  
Vol 2018 ◽  
pp. 1-6 ◽  
Author(s):  
Xia Wu ◽  
Shan Wang ◽  
Sen Chen ◽  
Ying-ying Wen ◽  
Bo Liu ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Tyrosine Phosphatase ◽  
Sensorineural Hearing ◽  
Paternal Allele ◽  
Chinese Family ◽  
Compound Heterozygous ◽  
Gene Encoding ◽  
Sequencing Method ◽  
And Function

PTPRQ gene, encoding protein tyrosine phosphatase receptor Q, is essential for the normal maturation and function of hair bundle in the cochlea. Its mutations can cause the defects of stereocilia in hair cell, which lead to nonsyndromic sensorineural hearing loss. Using next-generation sequencing and Sanger sequencing method, we identified a novel compound heterozygous missense mutation, c.4472C>T p.T1491M (maternal allele) and c.1973T>C p.V658A (paternal allele), in PTPRQ gene. The two mutations are the first reported to be the cause of recessively inherited sensorineural hearing loss. Hearing loss levels and progression involved by PTPRQ mutations among the existing cases seem to be varied, and the relationship between genotypes and phenotypes is unclear. Our data here further prove the important role of PTPRQ in auditory function and provide more information for the further mechanism research of PTPRQ-related hearing loss.

scholarly journals Two novel likely pathogenic variants of HARS2 identified in a Chinese family with sensorineural hearing loss

Hereditas ◽  
2020 ◽  
Vol 157 (1) ◽  
Author(s):  
Jing Yu ◽  
Wei Jiang ◽  
Li Cao ◽  
Xiaoxue Na ◽  
Jiyun Yang
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Motor Development ◽  
Sensorineural Hearing ◽  
Chinese Family ◽  
Targeted Next Generation Sequencing ◽  
Gross Motor Development ◽  
Pathogenic Variants ◽  
Perrault Syndrome ◽  
Ear Malformations

AbstractMutations in HARS2 are one of the genetic causes of Perrault syndrome, characterized by sensorineural hearing loss (SNHL) and ovarian dysfunction. Here, we identified two novel putative pathogenic variants of HARS2 in a Chinese family with sensorineural hearing loss including two affected male siblings, c.349G > A (p.Asp117Asn) and c.908 T > C (p.Leu303Pro), through targeted next-generation sequencing methods. The two affected siblings (13 and 11 years old) presented with early-onset, rapidly progressive SNHL. The affected siblings did not have any inner ear malformations or delays in gross motor development. Combined with preexisting clinical reports, Perrault syndrome may be latent in some families with non-syndromic deafness associated with HARS2 mutations. The definitive diagnosis of Perrault syndrome based on clinical features alone is a challenge in sporadic males, and preadolescent females with no signs of POI. Our findings further expanded the existing spectrum of HARS2 variants and Perrault syndrome phenotypes, which will assist in molecular diagnosis and genetic counselling of patients with HARS2 mutations.

scholarly journals Prevalence of Mutations in the GJB2, SLC26A4, GJB3, and MT-RNR1 Genes in 103 Children with Sensorineural Hearing Loss in Shaoxing, China

2018 ◽  
Vol 97 (6) ◽  
pp. E33-E38 ◽  
Author(s):  
Hong Yu ◽  
Dan Liu ◽  
Jingqun Yang ◽  
Zhiqiang Wu
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Genetic Screening ◽  
Mutant Allele ◽  
Hot Spot ◽  
Pathogenic Mutation ◽  
Sensorineural Hearing ◽  
Common Cause ◽  
Vestibular Aqueduct ◽  
Multiple Pcr

Mutations in the GJB2, SLC26A4, GJB3, and MT-RNR1 genes are known to be a common cause of hearing loss. However, the frequency of hot-spot mutations and genotype-phenotype correlations in patients with sensorineural hearing loss (SNHL) has been less frequently reported. We conducted a study of 103 children—56 boys and 47 girls, aged 5 months to 9 years (mean: 4.1 yr)—with SNHL who underwent genetic screening for 20 hot-spot mutations of the GJB2, SLC26A4, GJB3, and MT-RNR1 genes. Mutations were detected by multiple-PCR-based MALDI-TOF MS assay. At least one mutated allele was detected in 48 patients (46.6%), and 30 patients (29.1%) carried pathogenic mutations. Among all the detected mutations, the most common were GJB2 c.235delC and SLC26A4 c.919-2A>G, with allele frequencies of 23.8 and 6.8%, respectively. At least one mutant allele of SLC26A4 was detected in the 13 patients who had an enlarged vestibular aqueduct (EVA). Almost half of the children with SNHL carried a common deafness-related mutation, and nearly one-third carried a pathogenic mutation. The mutations in SLC26A4 were prevalent and correlated strongly with EVA.

Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings

Neurogenetics ◽  
2019 ◽  
Vol 20 (3) ◽  
pp. 165-172 ◽  
Author(s):  
Marcello Scala ◽  
Giorgia Brigati ◽  
Chiara Fiorillo ◽  
Claudia Nesti ◽  
Anna Rubegni ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Pathogenic Variant ◽  
Sensorineural Hearing

scholarly journals A mild phenotype of sensorineural hearing loss and palmoplantar keratoderma caused by a novel GJB2 dominant mutation

2017 ◽  
Vol 37 (4) ◽  
pp. 308-311
Author(s):  
I. Stanghellini ◽  
E. Genovese ◽  
S. Palma ◽  
C. Falcinelli ◽  
L. Presutti ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
In Silico ◽  
Sensorineural Hearing ◽  
Palmoplantar Keratoderma ◽  
Dominant Mutation ◽  
Mild Phenotype ◽  
Gene Gjb2

Le mutazioni dominanti del gene GJB2 sono causa di forme di sordità neurosensoriale sindromiche associate a manifestazioni cutanee palmo-plantari. In questo lavoro viene descritta la correlazione genotipo / fenotipo di una nuova mutazione nel gene GJB2 identificata in tre generazioni di una famiglia italiana (probando, madre e nonno) i cui membri presentano ipoacusia neurosensoriale associata a cheratoderma palmo-plantare ad insorgenza nell’età adulta. Una nuova mutazione di GJB2 (c.66G > T, p.Lys22Asn) allo stato eterozigote è stata identificata in tutti membri affetti. La segregazione della mutazione, la sua frequenza nella popolazione generale e predizioni in silico ne attribuiscono un ruolo patogenetico. La mutazione p.Lys22Asn GJB2 determina una forma di sordità dominante associata ad un’espressione variabile di cheratoderma palmo-plantare, rappresentando un modello di penetranza completa con effetto età-dipendente sul fenotipo.

Autosomal-Dominant Progressive Sensorineural Hearing Loss in a Large North American Family

1996 ◽  
Vol 5 (1) ◽  
pp. 105-111 ◽  
Author(s):  
Chris Halpin ◽  
Umang Khetarpal ◽  
Michael McKenna
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
North American ◽  
Autosomal Dominant ◽  
Family Members ◽  
Sensorineural Hearing ◽  
American Family ◽  
Dominant Mutation ◽  
The Family ◽  
Temporal Bones

Forty-nine members of a family with autosomal-dominant progressive sensorineural hearing loss were evaluated by audiologists, otologists, and geneticists. The results presented here show a nonsyndromic, autosomal-dominant mutation causing progressive sensorineural hearing loss beginning at about age 20 and becoming profound by approximately age 45. Because of the unambiguous nature of the hearing loss, the size of the family, and the availability of two previously described temporal bones from family members, a fairly complete description of the nature and impact of this mutation will be presented.

A novel mutation in the SMPX gene associated with X-linked nonsyndromic sensorineural hearing loss in a Chinese family

2018 ◽  
Vol 63 (6) ◽  
pp. 723-730 ◽  
Author(s):  
Yuyuan Deng ◽  
Zhijie Niu ◽  
LiangLiang Fan ◽  
Jie Ling ◽  
Hongsheng Chen ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Novel Mutation ◽  
Sensorineural Hearing ◽  
Chinese Family

scholarly journals Report of a Novel Splicing Mutation in the MYO15A Gene in a Patient With Sensorineural Hearing Loss and Spectrum of the MYO15A Mutations

2019 ◽  
Vol 12 ◽  
pp. 117954761987190 ◽  
Author(s):  
Elinaz Akbariazar ◽  
Ali Vahabi ◽  
Isa Abdi Rad
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Exome Sequencing ◽  
Sanger Sequencing ◽  
Pathogenic Mutation ◽  
Sensorineural Hearing ◽  
Reading Frame ◽  
Clinical Exome Sequencing ◽  
Common Causes ◽  
Syndromic Hearing Loss

Introduction: Autosomal recessive non-syndromic hearing loss (ARNSHL) is a genetically heterogeneous sensorineural disorder with an approximate incidence of 1.4:1000 in neonates. Mutations in more than 60 genes including the MYO15A gene has been reported in patients affected with ARNSHL. In the present study, we report a novel MYO15A mutation identified by clinical exome sequencing and confirmed by Sanger sequencing in a consanguineous Iranian family with ARNSHL. Case presentation: A 22-year-old woman with congenital non-syndromic sensorineural hearing loss referred to our medical genetic center. Her parents were consanguineous with F = 1/16 (first cousin), and clinical examination of the patient exclude dysmorphic features. Sanger sequencing of GJB2 and GJB6 genes, which are the most common causes of ARNSHL, was negative. Then she underwent clinical exome sequencing. Outcome: We found a novel homozygote variant (c.9611_9612+8delTGGTGAGCAT) in the MYO15A gene which creates a shift in the reading frame starting at codon 3204. This variant was confirmed by Sanger sequencing in the patient and also in her parents who were heterozygous. Discussion: The present results suggest that the homozygous MYO15A (c.9611_9612+8delTGGTGAGCAT) variant is a pathogenic mutation and to the best of our knowledge, this mutation has not been reported in any database.

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