scholarly journals Novel, Compound Heterozygous, Single-Nucleotide Variants inMARS2Associated with Developmental Delay, Poor Growth, and Sensorineural Hearing Loss

2015 ◽  
Vol 36 (6) ◽  
pp. 587-592 ◽  
Author(s):  
Bryn D. Webb ◽  
Patricia G. Wheeler ◽  
Jacob J. Hagen ◽  
Ninette Cohen ◽  
Michael D. Linderman ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Developmental Delay ◽  
Sensorineural Hearing ◽  
Compound Heterozygous ◽  
Single Nucleotide Variants ◽  
Poor Growth ◽  
Single Nucleotide

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 Efficacy of Connexin testing in detecting Non-syndromic Sensorineural Hearing Loss in an Indian cohort

2020 ◽  
Author(s):  
Jagannath Kurva ◽  
Nalini Bhat ◽  
Suresh K Shettigar ◽  
Harshada Tawade ◽  
Shagufta Shaikh ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Genetic Testing ◽  
Sensorineural Hearing Loss ◽  
Indian Population ◽  
Sensorineural Hearing ◽  
Gjb2 Gene ◽  
Compound Heterozygous ◽  
Missense Mutations ◽  
Pathogenic Mutations ◽  
Chinese Studies

Hearing loss is one of the most common sensory disorder and approximately 466 million people have disabling hearing loss worldwide. This study was conducted to identify the mutations in the GJB2, GJB3, and GJB6 genes in an Indian cohort with non-syndromic sensorineural hearing loss and ascertain its use for genetic testing. 31 affected individuals with prelingual bilateral non-syndromic severe to profound sensorineural hearing loss were identified based on clinical evaluation and audiometric assessment. Sanger Sequencing method was used. Six out of 31 affected individuals showed pathogenic nonsense mutations in GJB2 gene, accounting to 19.3%. Of the 6 affected individuals, 5 were homozygous for c.71G>A(p.Trp24Ter) and one was compound heterozygous for c.71G>A and c.370C>T(p.Gln124Ter). Missense mutations [c.380G>A(p.Arg127His) and c.457G>A(p.Val153Ile)], and 3' UTR variations were also identified in GJB2 gene. GJB3 and GJB6 genes showed only silent mutations and 3' UTR variations. 19.3% of affected individuals showing pathogenic mutations in GJB2 gene in our cohort is comparable to other Indian studies (approximately 20%) and it is less as compared to Caucasian, Japanese, and Chinese studies (approximately 50%). Lower occurrence of pathogenic mutations in GJB2 gene in our cohort and other Indian studies as compared to other Caucasian, Japanese and Chinese studies, and absence of pathogenic mutations in GJB3 and GJB6 genes indicates that these genes may have a limited role in the Indian population. Hence there is a need to identify genes that play a major role in the Indian population so that they can be used for genetic testing for NHSL to aid in accurate and early diagnosis.

Genetic Polymorphisms and Susceptibility to Sudden Sensorineural Hearing Loss: A Systematic Review

2019 ◽  
Vol 24 (1) ◽  
pp. 8-19 ◽  
Author(s):  
Zaizai Cao ◽  
Jinjian Gao ◽  
Saiyu Huang ◽  
Haijie Xiang ◽  
Chuqin Zhang ◽  
...  
Keyword(s):  
Systematic Review ◽  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Treatment Strategies ◽  
Sudden Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
Nucleotide Polymorphisms ◽  
Multicenter Studies ◽  
Single Nucleotide ◽  
Effective Prevention

Background: Recently, genetic factors have been considered as an important risk factor for sudden sensorineural hearing loss (SSNHL). Many studies analyzed the association between SSNHL and polymorphisms. However, most of them gave inconclusive results. Key Message: We performed a systematic review to find out the association between polymorphisms and susceptibility to SSNHL. Finally, 47 studies involving 5,230 SSNHL patients and 68 genes were included for analysis and discussion of results. Polymorphisms in 26 genes have been suggested to be correlated with the susceptibility to SSNHL. Summary: Although a great number of studies support that polymorphisms in genes are associated with susceptibility to SSNHL, we need large multicenter studies, which evaluate multiple single nucleotide polymorphisms in SSNHL patients, to find real genetic risk factors for susceptibility to SSNHL. This is very helpful in designing more effective prevention and treatment strategies for patients with SSNHL.

Two novel compound heterozygous families with a trimutation in the GJB2 gene causing sensorineural hearing loss

2015 ◽  
Vol 79 (12) ◽  
pp. 2295-2299 ◽  
Author(s):  
M. Martínez-Saucedo ◽  
M.R. Rivera-Vega ◽  
L. Gonzalez-Huerta ◽  
H. Urueta-Cuellar ◽  
J. Toral-López ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
Gjb2 Gene ◽  
Compound Heterozygous

Genetic studies in a patient with X-linked retinoschisis coexisting with developmental delay and sensorineural hearing loss

2016 ◽  
Vol 38 (3) ◽  
pp. 260-266 ◽  
Author(s):  
Dhandayuthapani Sudha ◽  
Irene Rosita Pia Patric ◽  
Aparna Ganapathy ◽  
Smitha Agarwal ◽  
Shuba Krishna ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Developmental Delay ◽  
Sensorineural Hearing ◽  
Genetic Studies
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