Novel Homozygous Mutation in PDZD7 Gene in a Family with Nonsyndromic Sensorineural Hearing Loss

Abstract Hearing loss is the most common sensory neural disorder in human, and according to WHO estimation, 5.5% (466 million) people worldwide have disabling hearing loss. In this study, a Chinese family with prelingual sensorineural hearing loss was investigated. The affected individuals showed moderately-severe hearing loss at all frequencies. Using target genome enrichment and high-throughput sequencing, a homozygous mutation c.2372delC, p.S791Ffs*17 was identified in PDZD7. The deletion mutation lies in exon 15 of PDZD7 and resultes in a frame shift followed by an early stop codon. Our study expand the mutation spectrum of PDZD7 and strengthens the clinical importance of this gene in patients with moderately-severe hearing loss.

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Does Drilling Induce Hearing Loss after Modified Radical Mastoidectomy? A Retrospective Study

Journal of Institute of Medicine ◽

10.3126/jiom.v42i3.37579 ◽

2020 ◽

Vol 42 (3) ◽

pp. 38-41

Author(s):

Yogesh Neupane ◽

Bijaya Kharel ◽

Heempali Dutta

Keyword(s):

Hearing Loss ◽

Sensorineural Hearing Loss ◽

Bone Conduction ◽

Sensorineural Hearing ◽

Radical Mastoidectomy ◽

Modified Radical Mastoidectomy ◽

The Mean ◽

Sensory Neural ◽

Mastoid Surgery ◽

Sensory Neural Hearing Loss

Introduction Incidence of sensory neural hearing loss following mastoid surgery varies from 1.2 – 4.5%.There are various causes for postoperative sensorineural hearing loss during mastoid surgery. This study aims to identify whether there is any correlation between drilling and postoperative sensory neural hearing loss. MethodsA retrospective study was conducted in the Department of ENT from January 2018 to June 2019. A total number of 68 patients above five years of age who underwent modified radical mastoidectomy for chronic otitis media squamous were included. Revision surgery, preoperative sensorineural hearing loss, injury to the ossicular chain during surgery, patients with lack of follow up or doubtful reports in mentally challenged were excluded from the study. The average bone conduction threshold was calculated from 500, 1000, 2000, 4000 Hz and compared using the Wilcoxon signed-rank test. ResultsThere were 43 males and 25 females in the study with a median age of 23.5 years (16-55). The mean preoperative bone conduction threshold in the four frequencies of 500 Hz, 1kHz, 2kHz, 4kHz were -2.06dB, -2.06dB, 3.31dB, 4.63 dB respectively and the mean postoperative bone conduction thresholds were 1.03, 1.32, 5.29, 4.04 respectively. There was a decline of mean of 3.09 dB and 3.38dB only at the low-frequencies (500Hz and 1kHz) BC threshold respectively which were statistically significant, whereas at higher frequency there was no decline in average postoperative BC threshold. ConclusionThere is no definite role of drill in inducing hearing loss and if present other causes of hearing loss should be sought in postoperative sensorineural hearing loss.

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Neonatal Hyperbilirubinemia and Long-Term Outcome: Another Look at the Collaborative Perinatal Project

PEDIATRICS ◽

10.1542/peds.92.5.651 ◽

1993 ◽

Vol 92 (5) ◽

pp. 651-657 ◽

Cited By ~ 10

Author(s):

Thomas B. Newman ◽

Mark A. Klebanoff

Keyword(s):

Hearing Loss ◽

Sensorineural Hearing Loss ◽

Neurodevelopmental Outcome ◽

Clinical Importance ◽

Sensorineural Hearing ◽

Neurologic Examination ◽

Term Outcome ◽

Long Term Outcome ◽

Medical Centers ◽

Motor Abnormalities

Objective. To examine the association between neonatal bilirubin levels and subsequent neurodevelopmental outcome. Design. Prospective cohort study. Setting. 12 US medical centers from 1959 (first births) to 1974 (last follow-up). Participants. 41 324 singleton white or black infants with birth weight ≥2500 g who had neonatal bilirubin measurements recorded and survived at least 1 year. Main outcome measures. Wechsler Intelligence Scale for Children Intelligence Quotient (IQ) at age 7 years, blinded neurologic examination at age 7 years, and sensorineural hearing loss at age 8 years. Results. There was no association between IQ and bilirubin. For example, comparing children who had maximum bilirubin levels ≥342 µmol/L (20 mg/dL) with those who had lower bilirubin levels, adjusted mean IQs were 105.0 and 103.4 in whites (difference + 1.6; 95% confidence interval [CI]: –0.4 to + 3.5) and 91.0 and 93.3 in blacks (difference –2.3; 95% CI: –4.8 to +0.2). Abnormal neurologic examination results were reported in 12 of 268 children (4.5%) with bilirubin ≥342 µmol/L (20 mg/dL) compared with 1249 of 33 004 children (3.8%) with lower levels (relative risk [RR] = 1.2; 95% CI: 0.7 to 2.1). The frequency of abnormal or suspicious neurologic examination results increased in a stepwise fashion with increasing bilirubin level (P < .001), from 4346/29 258 (14.9%) of those with bilirubin levels <171 µmol/L (10 mg/dL) to 60/268 (22.4%) of those with bilirubin levels ≥342 µmol/L (20 mg/dL), apparently due to increasing minor motor abnormalities at higher bilirubin levels. Sensorineural hearing loss was not associated with high bilirubin levels (RR = 1.0; 95% CI: 0.3 to 3.0). Conclusions. Neonatal bilirubin levels seem to have little effect on IQ, definite neurologic abnormalities, or hearing loss. Higher bilirubin levels are associated with minor motor abnormalities, but the clinical importance of this finding is limited by the weakness of the association, the mild nature of the abnormalities, and the lack of evidence that they are prevented by treatment.

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

International Journal of Pediatric Otorhinolaryngology ◽

10.1016/j.ijporl.2015.03.008 ◽

2015 ◽

Vol 79 (6) ◽

pp. 817-820 ◽

Cited By ~ 2

Author(s):

Xiaodong Gu ◽

Shan Sun ◽

Luo Guo ◽

Xiaoling Lu ◽

Honglin Mei ◽

...

Keyword(s):

Hearing Loss ◽

Sensorineural Hearing Loss ◽

Sensorineural Hearing ◽

Chinese Family

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

Neural Plasticity ◽

10.1155/2018/9425725 ◽

2018 ◽

Vol 2018 ◽

pp. 1-6 ◽

Cited By ~ 3

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.

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

Hereditas ◽

10.1186/s41065-020-00157-7 ◽

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.

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Efficacy of Hearing-Aid Based Telephone Strategies for Listeners with Moderate-to-Severe Hearing Loss

Journal of the American Academy of Audiology ◽

10.3766/jaaa.24.1.7 ◽

2013 ◽

Vol 24 (01) ◽

pp. 059-070 ◽

Cited By ~ 17

Author(s):

Erin M. Picou ◽

Todd A. Ricketts

Keyword(s):

Hearing Loss ◽

Speech Recognition ◽

Sensorineural Hearing Loss ◽

Hearing Aid ◽

Recognition Performance ◽

Sensorineural Hearing ◽

Subjective Ratings ◽

Severe Hearing Loss ◽

Acoustic Coupling ◽

Wireless Routing

Background: Understanding speech over the telephone when listening in noisy environments may present a significant challenge for listeners with moderate-to-severe hearing loss. Purpose: The purpose of this study was to compare speech recognition and subjective ratings across several hearing aid-based telephone listening strategies for individuals with moderate-to-severe sensorineural hearing loss. Research Design: Speech recognition and subjective ratings were evaluated for a simulated telephone signal. The strategies evaluated included acoustic telephone, unilateral telecoil, unilateral wireless streaming, and bilateral wireless streaming. Participants were seated in a noisy room for all evaluations. Study Sample: Eighteen adults, aged 49–88 yr, with moderate-to-severe sensorineural hearing loss participated. Data Collection and Analysis: Speech recognition scores on the Connected Speech Test were converted to rationalized arcsine units and analyzed using analysis of variance testing and Tukey post hoc analyses. Subjective ratings of ease and comfort were also analyzed in this manner. Results: Speech recognition performance was poorest with acoustic coupling to the telephone and best with bilateral wireless routing. Telecoil coupling resulted in better speech recognition performance than acoustic coupling, but was significantly poorer than bilateral wireless routing. Furthermore, unilateral wireless routing and telecoil coupling generally led to similar speech recognition performance, except in lower-level background noise conditions, for which unilateral routing resulted in better performance than the telecoil. Conclusions: For people with moderate-to-severe sensorineural hearing loss, acoustic telephone listening with a hearing aid may not lead to acceptable performance in noise. Although unilateral routing options (telecoil and wireless streaming) improved performance, speech recognition performance and subjective ratings of ease and comfort were best when bilateral wireless routing was used. These results suggest that wireless routing is a potentially beneficial telephone listening strategy for listeners with moderate-to-severe hearing loss who are fitted with limited venting if the telephone signal is routed to both ears. Unilateral wireless routing may provide similar benefits to traditional unilateral telecoil. However, the newer wireless systems may have the advantage for some listeners in that they do not include some of the positioning constraints associated with telecoil use.

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

Journal of Human Genetics ◽

10.1038/s10038-018-0443-x ◽

2018 ◽

Vol 63 (6) ◽

pp. 723-730 ◽

Cited By ~ 5

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

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

BioMed Research International ◽

10.1155/2020/6370386 ◽

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.

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