Article
Genetics & Heredity
Mohamed Tawalbeh, Dunia Aburizeg, Bayan O. O. Abu Alragheb, Wala Sami Alaqrabawi, Zain Dardas, Luma Srour, Baraah Hatem Altarayra, Ayman A. A. Zayed, Zaid El Omari, Bilal Azab
Summary: SLC26A4 gene mutations have been identified as one of the causes of hearing loss, with various phenotypic manifestations. This study provides important insights into the diagnosis of patients from three different families, highlighting the intra- and inter-familial variability of SLC26A4-related phenotypes and emphasizing the impact of SLC26A4 gene on personalized healthcare management.
Review
Genetics & Heredity
Keiji Honda, Andrew J. Griffith
Summary: Mutations in SLC26A4 can cause Pendred syndrome and DFNB4, with the CEVA haplotype potentially influencing the phenotype in EVA patients.
Article
Medicine, General & Internal
Akira Ganaha, Eiji Hishinuma, Tadashi Kaname, Masahiro Hiratsuka, Shunsuke Kondo, Tetsuya Tono
Summary: Both Pendred syndrome and nonsyndromic hearing loss with an enlarged vestibular aqueduct are caused by SLC26A4 pathogenic variants. The study found that the spectrum of SLC26A4 pathogenic variants varies with the ethnic background. A novel genotyping method using STH-PAS technology was able to accurately identify the most common pathogenic variants in EVA patients in Okinawa, providing a rapid genetic diagnosis with high diagnostic rate.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Pediatrics
Jun Chul Byun, Kyu-Yup Lee, Su-Kyeong Hwang
Summary: This article reports a new presentation of enlarged vestibular aqueduct in a Korean family, including the presence of SLC26A4 variations in family members and incomplete Horner syndrome in the third daughter.
Review
Audiology & Speech-Language Pathology
Marie-Louise Uhre Hansen, Eva Rye Rasmussen, Per Caye-Thomasen, Kristianna Mey
Summary: This study investigated the effects of cochlear implantation in pediatric patients with Pendred Syndrome or non-syndromic enlarged vestibular aqueduct (NSEVA), including improvement in hearing and speech perception outcomes, as well as surgical complications. A systematic review of the literature was performed, and 55 studies were included for analysis. The results showed significant improvements in audiometric outcomes and auditory performance/speech intelligibility, with a decrease in implantation age over the past two decades. The most common surgical complication reported was perilymph gusher/oozing.
Article
Medicine, Research & Experimental
Pengchao Feng, Zhijiao Xu, Jialin Chen, Meizhen Liu, Yu Zhao, Daqi Wang, Lei Han, Li Wang, Bo Wan, Xingshun Xu, Dali Li, Yilai Shu, Yimin Hua
Summary: A wide range of SLC26A4 mutations can cause Pendred syndrome and enlarged vestibular aqueduct, both leading to sensorineural hearing loss. The splice-site mutation A-2G, which is common in Asian populations, results in skipping of exon 8 during pre-mRNA splicing and premature termination of the protein. Current treatments for sensorineural hearing loss are ineffective. However, antisense oligonucleotides (ASOs) that target the mutation hold promise as a potential treatment option.
MOLECULAR THERAPY-NUCLEIC ACIDS
(2022)
Article
Otorhinolaryngology
F. Forli, F. Lazzerini, G. Auletta, L. Bruschini, S. Berrettini
Summary: This study aimed to analyse the clinical and audiological features of a cohort of Caucasian patients with NSEVA/PDS, genetic assessment and inner ear morphology. The results showed a significant correlation between SLC26A4 mutations and the presence of PDS, as well as differences in severity of hearing loss between PDS and NSEVA patients.
EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY
(2021)
Article
Genetics & Heredity
Jeroen J. Smits, Suzanne E. de Bruijn, Cornelis P. Lanting, Jaap Oostrik, Luke O'Gorman, Tuomo Mantere, Frans P. M. Cremers, Susanne Roosing, Helger G. Yntema, Erik de Vrieze, Ronny Derks, Alexander Hoischen, Sjoert A. H. Pegge, Kornelia Neveling, Ronald J. E. Pennings, Hannie Kremer
Summary: Pathogenic variants in SLC26A4 are associated with autosomal recessive hearing loss and vestibular aqueduct enlargement. This study of 28 Dutch index cases with hearing loss and enlarged vestibular aqueducts revealed a potential key haplotype enriched in certain patient cohorts, providing insights for further genetic exploration and potential therapeutic strategies.
Article
Biotechnology & Applied Microbiology
Zewen Chen, Mengjie Luo, Can Zhou, Xu Bie, Shen Yu, Xiuzhen Sun
Summary: This study established 3D numerical models of the inner ear of LVAS patients using CT images of the temporal bone. The fluid-solid coupling models were constructed to analyze the physiological features and pathophysiology of LVAS from a biomechanical perspective. The results showed that the deformation of the round window membranes increased with the increase in load. The fluid-solid coupling analysis also revealed that fluctuating cerebrospinal fluid pressure could affect inner ear pressure, and the size of the vestibular aqueduct had a limiting effect on the pressure.
FRONTIERS IN BIOENGINEERING AND BIOTECHNOLOGY
(2023)
Review
Genetics & Heredity
Yunhua Huang, Linlin Li, Liqiu Pan, Xiaoting Ling, Chenghan Wang, Chaoyu Huang, Yifang Huang
Summary: This study identified genetic defects in a Chinese patient with non-syndromic enlarged vestibular aqueduct (NSEVA) and discovered a novel mutation, expanding our understanding of the disease.
FRONTIERS IN GENETICS
(2023)
Article
Biochemistry & Molecular Biology
Leonid A. Klarov, Vera G. Pshennikova, Georgii P. Romanov, Aleksandra M. Cherdonova, Aisen V. Solovyev, Fedor M. Teryutin, Nikolay V. Luginov, Petr M. Kotlyarov, Nikolay A. Barashkov
Summary: Pathogenic variants in the SLC26A4, FOXI1, and KCNJ10 genes are associated with hearing loss and specific inner ear abnormalities. This study analyzed the phenotype of deaf individuals from the Sakha Republic of Russia and found that biallelic SLC26A4 variants are common in patients with incomplete partition of the cochlea, with IP-2+EVA being the dominant anomaly. This finding is important for cochlear implantation surgery.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Genetics & Heredity
Yongan Tian, Hongen Xu, Danhua Liu, Juanli Zhang, Zengguang Yang, Sen Zhang, Huanfei Liu, Ruijun Li, Yingtao Tian, Beiping Zeng, Tong Li, Qianyu Lin, Haili Wang, Xiaohua Li, Wei Lu, Ying Shi, Yan Zhang, Hui Zhang, Chang Jiang, Ying Xu, Bei Chen, Jun Liu, Wenxue Tang
Summary: The study developed a new molecular diagnosis panel for EVA using multiplex PCR enrichment and next-generation sequencing, which showed a significant diagnostic yield for EVA patients.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Article
Multidisciplinary Sciences
So Young Kim, Seungmin Lee, Go Hun Seo, Bong Jik Kim, Doo Yi Oh, Jin Hee Han, Moo Kyun Park, So Min Lee, Bonggi Kim, Nayoung Yi, Namju Justin Kim, Doo Hyun Koh, Sohyun Hwang, Changwon Keum, Byung Yoon Choi
Summary: This study utilized an automated variant prioritization system to analyze exome sequencing data of 263 sensorineural hearing loss patients, showing that the system processed data faster and with higher accuracy compared to manual analysis. However, manual prioritization is still necessary for flexible interpretations requiring specific genotype-phenotype correlations.
SCIENTIFIC REPORTS
(2021)
Article
Medicine, General & Internal
Arnoldas Matulevicius, Emanuele Bernardinelli, Zippora Brownstein, Sebastian Roesch, Karen B. Avraham, Silvia Dossena
Summary: The SLC26A4 gene mutation is associated with hearing loss and is particularly common in the Ashkenazi Jewish population. Cell-based assays confirmed that the mutant protein has reduced ion transport function, abnormal subcellular localization, and decreased expression levels, supporting its pathogenicity. Mouse experiments further demonstrated the relevance of this protein variant to Pendred syndrome/DFNB4.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Genetics & Heredity
Ana Carla Batissoco, Vinicius Pedroso-Campos, Eliete Pardono, Juliana Sampaio-Silva, Cindy Yukimi Sonoda, Gleiciele Alice Vieira-Silva, Estefany Uchoa da Silva de Oliveira Longati, Diego Mariano, Ana Cristina Hiromi Hoshino, Robinson Koji Tsuji, Rafaela Jesus-Santos, Osorio Abath-Neto, Ricardo Ferreira Bento, Jeanne Oiticica, Karina Lezirovitz
Summary: The study found that GJB2/GJB6 genes are one of the main causes of hearing loss in patients from all regions of Brazil, with a probable genetic etiology identified in approximately 50% of cases based on causative variants and genealogy analyses. Selective screenings for specific probands can enhance molecular diagnosis when comprehensive screening is not available.
