Article
Cell Biology
Minjin Kang, Jung Ah Kim, Mee Hyun Song, Sun Young Joo, Se Jin Kim, Seung Hyun Jang, Ho Lee, Je Kyung Seong, Jae Young Choi, Heon Yung Gee, Jinsei Jung
Summary: In this study, a novel nonsense homozygous variant in CEP250 was identified among family members with progressive moderate sensorineural hearing loss. This variant resulted in centrosome localization deficit and hair cell degeneration in the cochlea, leading to the progression of hearing loss in humans and mice.
Article
Genetics & Heredity
Kevin T. Booth, Yoel Hirsch, Anna C. Vardaro, Josef Ekstein, Devorah Yefet, Adina Quint, Tzvi Weiden, David P. Corey
Summary: This study investigated the genetic causes of hearing loss in four Ashkenazi Jewish families, identifying new variants in the MYO15A gene. The research revealed the impact of different variants on the phenotype of hearing loss, further elucidating the role of genetic backgrounds in hearing loss.
FRONTIERS IN GENETICS
(2021)
Article
Biochemistry & Molecular Biology
Hee Ji Choi, Sumaira Kanwal, Rashid Hameed, Nasrin Tamanna, Shazia Perveen, Hina Mahreen, Wonseok Son, Kyung Suk Lee, Ki Wha Chung
Summary: This study performed genetic analysis on Pakistani DFNB families and identified biallelic mutations as the potential cause of early onset hearing loss in six families. This research will contribute to providing precise molecular diagnosis and treatment for patients with prelingual onset deafness.
Article
Medical Laboratory Technology
Ehsan Abbaspour Rodbaneh, Mohammad Panahi, Bahareh Rahimi, Haleh Mokabber, Reza Farajollahi, Behzad Davarnia
Summary: This study in the Iranian Azeri population identified the c.35delG; p. Gly12Val mutation in the GJB2 gene as the most common cause of ARNSHL, with a frequency of 26%. A novel mutation was also detected, highlighting the importance of ARNSHL screening programs based on local population data.
JOURNAL OF CLINICAL LABORATORY ANALYSIS
(2021)
Article
Genetics & Heredity
Stefania Zampatti, Cristina Peconi, Giulia Calvino, Rosangela Ferese, Stefano Gambardella, Raffaella Cascella, Jacopo Sebastiani, Benedetto Falsini, Andrea Cusumano, Emiliano Giardina
Summary: In this study, a causative gene RDH8 for Stargardt macular dystrophy was identified in a consanguineous Italian family using a combined approach and multilevel validation. The disease phenotype was consistent with previous murine models. This study provides evidence for a splicing mutation in a gene that has not been reported in human disorders before.
Article
Genetics & Heredity
Bong Jik Kim, Takushi Miyoshi, Taimur Chaudhry, Thomas B. Friedman, Byung Yoon Choi, Takehiko Ueyama
Summary: Mutations in the DIAPH1 gene are associated with various types of hearing loss, with the specific mutation type determining the phenotype.
Article
Genetics & Heredity
Thashi Bharadwaj, Isabelle Schrauwen, Anushree Acharya, Liz M. Nouel-Saied, Marja-Leena Vaisanen, Minna Kraatari, Elisa Rahikkala, Irma Jarvela, Jouko Kotimaki, Suzanne M. Leal
Summary: The genetic cause of hearing impairment in two Finnish families was investigated in this study. A homozygous pathogenic splice site variant in the CAPB2 gene was identified as the underlying cause of the hearing impairment.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2022)
Article
Medicine, Research & Experimental
Andrea Simi, Julia Perry, Emma Schindler, Andrea Oza, Minjie Luo, Tiffiney Hartman, Ian D. Krantz, John A. Germiller, Kosuke Kawai, Margaret Kenna
Summary: This study investigated phenotypic presentation and incidence of audiologic progression in pediatric patients with STRC-related hearing loss. Patients had bilateral, symmetric SNHL ranging from mild to moderate-severe at baseline, with approximately 58% showing some degree of progressive HL. The variability of STRC phenotype and possible audiologic progression should be considered in clinical management of pediatric STRC-related SNHL.
Article
Genetics & Heredity
Salam Massadeh, Maha Albeladi, Nour Albesher, Fahad Alhabshan, Kapil Dev Kampe, Farah Chaikhouni, Mohamed S. Kabbani, Christian Beetz, Manal Alaamery
Summary: This study identified a novel PRKD1 variant in a consanguineous Saudi family with three daughters affected by Congenital Heart Defects (CHDs) using whole exome sequencing (WES). The homozygous variant found in the affected daughters was also present in their asymptomatic father, suggesting a possible autosomal recessive inheritance pattern with gender limitation. This finding sheds new light on the genotype-phenotype association between PRKD1 and CHDs, providing insight into the genetic determinants of CHDs.
Article
Genetics & Heredity
Qiang Du, Qin Sun, Xiaodong Gu, Jinchao Wang, Weitao Li, Luo Guo, Huawei Li
Summary: Hearing loss is a common sensory neural disorder in humans, affecting a significant percentage of the global population. A study on a Chinese family with prelingual sensorineural hearing loss identified a pathogenic variant in the PDZD7 gene, highlighting its clinical importance in patients with moderately severe hearing loss.
BMC MEDICAL GENOMICS
(2022)
Article
Medicine, General & Internal
Minna Kraatari-Tiri, Maria K. Haanpaa, Tytti Willberg, Pia Pohjola, Riikka Keski-Filppula, Outi Kuismin, Jukka S. Moilanen, Sanna Hakli, Elisa Rahikkala
Summary: Sensorineural hearing loss (SNHL) is a common sensory deficit worldwide, and genetic factors contribute significantly to congenital hearing loss. This study identified TMC1 gene variants associated with different types of hearing loss. Early diagnosis and timely hearing rehabilitation can lead to good speech perception in noise for affected individuals.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Genetics & Heredity
Robert Chen, Maria Alejandra Diaz-Miranda, Erfan Aref-Eshghi, Tiffiney R. Hartman, Christopher Griffith, Jennifer L. Morrison, Patricia G. Wheeler, Erin Torti, Gabriele Richard, Margaret Kenna, Elizabeth T. Dechene, Nancy B. Spinner, Renkui Bai, Laura K. Conlin, Ian D. Krantz, Sami S. Amr, Minjie Luo
Summary: Synonymous variants play an important role in genetic diseases, but are often overlooked during genetic testing. This study found that a synonymous variant in the TECTA gene can alter splicing and lead to hearing loss. The variant is more common in Latino populations of African ancestry and may have originated as a founder variant in this specific population.
Article
Biochemistry & Molecular Biology
Patrizia Spadafora, Antonio Qualtieri, Francesca Cavalcanti, Gemma Di Palma, Olivier Gallo, Selene De Benedittis, Annamaria Cerantonio, Luigi Citrigno
Summary: This study reports a new missense variant in the DYSF gene associated with LGMDR2/2B, identified through NGS technology. The variant was found in homozygosity in two sisters of the proband, indicating its probable pathological role in the onset of the disease. The study highlights the potential of NGS as a powerful tool for identifying LGMD subtypes and emphasizes the importance of collecting and sharing genetic data for further genetic-molecular research and personalized medicine.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Genetics & Heredity
Aboulfazl Rad, Thore Schade-Mann, Philipp Gamerdinger, Grigoriy A. Yanus, Bjoern Schulte, Marcus Mueller, Evgeny N. Imyanitov, Saskia Biskup, Hubert Loewenheim, Anke Tropitzsch, Barbara Vona
Summary: COL11A1-encoded alpha-chain collagen molecules are crucial for skeletal, ocular, and auditory function. Variants in COL11A1 have been associated with syndromes affecting these systems. This study provides evidence that splice-altering variants in COL11A1 cause DFNA37 hearing loss, emphasizing the importance of including COL11A1 in genetic testing for nonsyndromic deafness.
Article
Medicine, General & Internal
Pavlina Plevova, Jana Indrakova, Judy Savige, Petra Kuhnova, Petra Tvrda, Dita Cerna, Sarka Hilscherova, Monika Kudrejova, Daniela Polendova, Radka Jaklova, Martina Langova, Helena Jahnova, Jana Lastuvkova, Jiri Dusek, Josef Gut, Marketa Vlckova, Pavla Solarova, Gabriela Kreckova, Eva Kantorova, Jana Soukalova, Rastislav Slavkovsky, Jana Zapletalova, Tomas Tichy, Dana Thomasova
Summary: This study found two gene variants in the Romani population that contribute to the high prevalence of kidney failure. These variants are involved in Alport syndrome, a common genetic kidney disease characterized by hematuria, proteinuria, end-stage kidney failure, hearing loss, and eye anomalies. These findings have important implications for the prevention and treatment of kidney diseases in the Romani population.
FRONTIERS IN MEDICINE
(2023)
Article
Neurosciences
Mine Baydan-Aran, Orkun Tahir Aran, Suna Tokgoz-Yilmaz
Summary: This study adapted and analyzed the psychometric properties of Vestibular Activities of Participation (VAP) in Turkish language. The results showed that the Turkish version of VAP is valid and reliable in Turkish-speaking populations, and can be used to determine the impact of vestibular disorders on activities and participation.
JOURNAL OF VESTIBULAR RESEARCH-EQUILIBRIUM & ORIENTATION
(2022)
Article
Rheumatology
Kubra Turan, Mucteba Enes Yayla, Murat Arslan, Suna Tokgoz Yilmaz, Ercan Okatan, Murat Turgay, Cem Meco
Summary: The study showed a significantly higher incidence of hearing loss in patients with SSc compared to healthy controls. In addition to organ involvement, cochlear involvement was also observed in these patients, indicating a need for further research.
MODERN RHEUMATOLOGY
(2022)
Article
Otorhinolaryngology
UmuS Ozbey-Yucel, Asli Ucar, Zehra Aydogam, Suna Tokgoz-Yilmaz, Suha Beton
Summary: The present study aimed to determine the effects of dietary and physical activity interventions on tinnitus symptoms. The results showed that dietary and physical activity interventions can alleviate tinnitus symptoms and improve the quality of life in individuals with tinnitus.
AURIS NASUS LARYNX
(2022)
Article
Otorhinolaryngology
Z. Aydogan, M. Cinar Satekin, E. Ocak, S. Tokgoz Yilmaz
Summary: This study investigated the impact of the coronavirus disease 2019 pandemic on tinnitus severity and quality of life in individuals with subjective tinnitus. The results showed that tinnitus loudness and annoyance worsened during the pandemic, affecting perceptions of tinnitus and quality of life. Therefore, psychological support is crucial for improving tinnitus perception and mood changes. Due to limited personal contact and daily activities during the pandemic, internet-based interventions should be prioritized in tinnitus therapy.
JOURNAL OF LARYNGOLOGY AND OTOLOGY
(2022)
Article
Endocrinology & Metabolism
Dilek Demiral Ozgedik, Suna Tokgoz Yilmaz, Berrak Bilginer Gurbuz, H. Serap Sivri, Gonca Sennaroglu
Summary: This study evaluated the audiological findings among patients with glutaric aciduria type 1 (GA-1). The results showed that 77.47% of the patients had mild sensorineural hearing loss. Symptomatic patients had significantly worse hearing thresholds, and acute encephalopathic crisis had a negative effect on hearing function.
METABOLIC BRAIN DISEASE
(2022)
Article
Multidisciplinary Sciences
Guney Bademci, Maria Lachgar-Ruiz, Mangesh Deokar, Mohammad Faraz Zafeer, Clemer Abad, Muzeyyen Yildirim Baylan, Neil J. Ingham, Jing Chen, Claire J. Sineni, Nirmal Vadgama, Ioannis Karakikes, Shengru Guo, Duygu Duman, Nitu Singh, Gaurav Harlalka, Shirish P. Jain, Barry A. Chioza, Katherina Walz, Karen P. Steel, Jamal Nasir, Mustafa Tekin
Summary: The discovery and understanding of deafness genes, like MINAR2, have greatly contributed to our knowledge of hearing and its disorders. This study found DNA variants in MINAR2 in families with autosomal recessive nonsyndromic deafness, highlighting the importance of this gene in hearing.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Otorhinolaryngology
Zehra Aydogan, Merve C. I. N. A. R. Satekin, Muhammed Sefa Uyar, Songul Aksoy, Suna Tokgoz-Yilmaz
Summary: The study aimed to determine the therapeutic role of transcutaneous electrical nerve stimulation (TENS) on chronic subjective tinnitus. The results showed that TENS therapy significantly reduced the severity of tinnitus and improved the quality of life in patients.
AMERICAN JOURNAL OF OTOLARYNGOLOGY
(2022)
Article
Audiology & Speech-Language Pathology
Mine Baydan-Aran, Kubra Binay-Bolat, Gulcin Hancer-Aslan, Selen Avci-Can, Secil Yegin, Seher Oztas, Suna Tokgoz-Yilmaz, Irfan Yorulmaz
Summary: There was no significant difference between TRV Chair and manual maneuvers in the treatment of multicanal BPPV cases.
AUDIOLOGY AND NEURO-OTOLOGY
(2023)
Article
Ophthalmology
Maria Fernanda Villalba, Chris Michael Li, Parastou Pakravan, Guney Bademci, Ta Chen Peter Chang
Summary: This study compared NGS-MGPs from 5 commercial laboratories to assist ophthalmologists in diagnostic genetic testing decisions for CASAs. The gene panel composition, consensus rate, dissensus rate, and intronic variant coverage were compared for different conditions. The study found that the genetic testing of CASAs using NGS-MGPs is complicated due to the number, variety, and overlap of phenotypic and genetic characteristics. Further research is needed to determine the diagnostic yield of NGS-MGPs for CASAs.
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2023)
Article
Clinical Neurology
Emre Soylemez, Kubra Binay Bolat, Kursad Karakoc, Mehmet Can, Hazan Basak, Zehra Aydogan, Suna Tokgoz-Yilmaz
Summary: This study aimed to investigate the effect of using a TRV chair on residual dizziness (RD) after successful treatment of idiopathic posterior semicircular canal benign paroxysmal positional vertigo (BPPV) with canalith repositioning maneuver (CRM). The results showed that performing CRM with a TRV chair can reduce the severity of RD compared to manual repositioning.
OTOLOGY & NEUROTOLOGY
(2023)
Meeting Abstract
Biochemistry & Molecular Biology
Katta Girisha, Barbara Vona, Daniel Schwartzbaum, Alejandro A. Rodriguez, Solange S. Lewis, Mehran Beiraghi Toosi, Periyasamy Radhakrishnan, Nazim Bozan, Ramazan Akin, Mohammad Doosti, Ramachandran Manju, Duygu Duman, Claire J. Sineni, Sheela Nampoothiri, Ehsan Ghayoor Karimiani, Henry Houl-Den, Guney Bademci, Mustafa Tekin, Sofia Douzgou Houge, Reza Maroofian
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Otorhinolaryngology
Ekin Yigit Koroglu, Asena Gokcay Canpolat, Suna Yilmaz, Ozgur Demir
Summary: This study aimed to screen patients diagnosed with sensorineural hearing loss for Fabry disease. The results showed that 2 out of 168 patients (1.2%) were diagnosed with Fabry disease using enzyme activity and genetic testing. This suggests that screening for Fabry disease in patients with idiopathic sensorineural hearing loss may be a useful strategy for detecting new cases.
TURKISH ARCHIVES OF OTORHINOLARYNGOLOGY
(2023)
Article
Audiology & Speech-Language Pathology
Buenyamin Cildir, Suna Tokgoz-Yilmaz, Meral Turkyilmaz
Summary: This study aimed to develop a quantitative measurement method to predict long-term auditory adaptation and form a psychoacoustic test battery. The results showed that individuals with hidden hearing loss had higher scores in loudness adaptation.
Article
Acoustics
Bunyamin Cildir, Suna Tokgoz-Yilmaz, Gonca Sennaroglu
Summary: The Turkish version of the spatial hearing questionnaire (SHQ) was found to be a valid and reliable tool for assessing hearing functions. Moderate, positive correlations were observed between SHQ and SSQ, and SHQ and SD, indicating their clinical usefulness in planning hearing rehabilitation and follow-up.
ARCHIVES OF ACOUSTICS
(2021)
Article
Otorhinolaryngology
Bunyamin Cildir, Samet Kilic, Basak Ozkisi, Suna Tokgoz-Yilmaz
Summary: This study aimed to analyze the validity and reliability of a Turkish shortened version of Speech, Spatial and Qualities of Hearing (SSQ) scale on adults using hearing aids and/or cochlear implants. The results showed high internal consistency and reliability for all three forms of the SSQ, indicating that the Turkish shortened version is a valid and reliable tool for assessing hearing function in individuals with different levels of hearing loss. Individuals with moderate hearing loss scored higher on SSQ12-A and SSQ12-B compared to those with severe hearing loss, and no significant difference was found between the scores of the respondents in the first and second rounds of SSQ12-A administration. The three forms of the SSQ12 are useful for evaluating hearing impairment and organizing rehabilitation programs.
