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
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
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.
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.
Article
Genetics & Heredity
Xiaohui He, Shaozhi Zhao, Lin Shi, Yitong Lu, Yintong Yang, Xinwen Zhang
Summary: This study investigated the genetic causes of hearing loss in patients with enlarged vestibular aqueduct (EVA) and identified a novel missense mutation in the SLC26A4 gene. This mutation, c.2069T>A, in compound heterozygosity with c.1174A>T, is likely to be the cause of hearing loss. The findings expand the gene mutation spectrum of SLC26A4 and provide valuable knowledge for diagnosis and genetic counseling associated with EVA-induced hearing loss.
BMC MEDICAL GENOMICS
(2022)
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)
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, Research & Experimental
Maximilian C. Stahl, Todd Otteson
Summary: The proportion of patients with EVA reporting vestibular dysfunction varies significantly. Performing vestibular function testing can help identify asymptomatic patients with vestibular dysfunction, and future studies should focus on improving treatment of vestibular symptoms in EVA patients.
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
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
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
Genetics & Heredity
Ting Wu, Limei Cui, Yakui Mou, Wentao Guo, Dawei Liu, Jingjing Qiu, Cong Xu, Jiamin Zhou, Fengchan Han, Yan Sun
Summary: This study identified a novel heterozygous mutation c.2029C > T in the SLC26A4 gene, which is pathogenic and contributes to the development of EVA. This finding expands the spectrum of variants in the SLC26A4 gene.
BMC MEDICAL GENOMICS
(2022)
Article
Otorhinolaryngology
Taylor E. Patterson, Victoria B. Gonzalez, Jeffrey D. Carron
Summary: The study demonstrates that cochlear implantation is an effective treatment for children with Pendred Syndrome, improving hearing and facilitating speech and cognitive development. Preoperative imaging results show that most patients have inner ear malformations, yet electrodes were successfully implanted with minimal complications during surgery.
AMERICAN JOURNAL OF OTOLARYNGOLOGY
(2021)
Article
Behavioral Sciences
K. Moin-Darbari, L. Lafontaine, M. Maheu, B. A. Bacon, F. Champoux
Summary: The brain of deaf individuals is not just affected by deafness, but also by comorbid vestibular impairments, challenging our understanding of the impact of hearing loss on brain development.
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)