Article
Clinical Neurology
Alicia Wang, A. Eliot Shearer, Guang Wei Zhou, Margaret Kenna, Dennis Poe, Greg R. Licameli, Jacob R. Brodsky
Summary: Hearing loss is often accompanied by peripheral vestibular loss, which can impact motor development and quality of life in children. The extent of vestibular dysfunction in genetic pediatric hearing loss is not well-understood. Research in children with genetic hearing loss undergoing vestibular evaluation found that PVL is common and varies by affected gene.
FRONTIERS IN NEUROLOGY
(2021)
Article
Biology
C. S. Fonteles, R. H. Finnell, Y. Lei, M. E. Zurita-Jimenez, A. J. Monteiro, T. M. George, R. J. Harshbarger
Summary: This study identified variants in ALX4, EFNA4, and TWIST1 genes in children with non-syndromic craniosynostosis (NSC) and suggested they may contribute to the development of the condition. The findings imply the importance of these genes as potential candidate genes in the diagnosis of craniosynostosis.
BRAZILIAN JOURNAL OF MEDICAL AND BIOLOGICAL RESEARCH
(2021)
Review
Biochemistry & Molecular Biology
Mirko Alde, Giovanna Cantarella, Diego Zanetti, Lorenzo Pignataro, Ignazio La Mantia, Luigi Maiolino, Salvatore Ferlito, Paola Di Mauro, Salvatore Cocuzza, Jerome Rene Lechien, Giannicola Iannella, Francois Simon, Antonino Maniaci
Summary: Autosomal dominant non-syndromic hearing loss is typically caused by a single dominant allele within the disease gene. It most commonly affects individuals with a hearing-impaired parent, although de novo mutations can occur. Over 50 genes and 80 loci have been identified for this type of hearing loss. The characteristics range from bilateral, post-lingual onset, high-frequency progressive hearing loss to low-frequency fluctuating hearing loss. Long-term audiological follow-up is crucial for early detection and appropriate treatment with hearing aids or cochlear implants.
Article
Genetics & Heredity
Miles J. Klimara, Carla Nishimura, Donghong Wang, Diana L. Kolbe, Amanda M. Schaefer, William D. Walls, Kathy L. Frees, Richard J. H. Smith, Hela Azaiez
Summary: The study aimed to evaluate the occurrence rate of de novo variants (DNVs) in hearing loss-associated genes and assess their contribution to hearing loss. Through segregation analysis of a series of trio families, DNVs were found to be a relatively common cause of hearing loss, with marked variability based on inheritance mode and phenotype.
GENETICS IN MEDICINE
(2022)
Article
Genetics & Heredity
D. L. Polla, E. J. Bhoj, J. B. G. M. Verheij, J. S. Klein Wassink-Ruiter, A. Reis, C. Deshpande, A. Gregor, K. Hill-Karfe, A. T. Vulto-van Silfhout, R. Pfundt, E. M. H. F. Bongers, H. Hakonarson, S. Berland, G. Gradek, S. Banka, K. Chandler, L. Gompertz, S. C. Huffels, C. T. R. M. Stumpel, R. Wennekes, A. P. A. Stegmann, W. Reardon, E. K. S. M. Leenders, B. B. A. de Vries, D. Li, E. Zackai, N. Ragge, S. A. Lynch, S. Cuddapah, H. van Bokhoven, C. Zweier, A. P. M. de Brouwer
Summary: The study identified that females with de novo variants in MED12 exhibit variable neurodevelopmental disorders, with protein truncating variants leading to a syndromic phenotype including intellectual disability, facial dysmorphism, and other abnormalities, while de novo missense variants resulted in a severe yet less specific phenotype with features like severe intellectual disability and autistic traits.
GENETICS IN MEDICINE
(2021)
Article
Genetics & Heredity
Maria Asaad, Mona Mahfood, Abdullah Al Mutery, Abdelaziz Tlili
Summary: This study identified two novel pathogenic variants in the MYO15A and OTOF genes using targeted next-generation sequencing. These variants were found in two consanguineous Yemeni families affected with hearing loss.
Article
Biochemistry & Molecular Biology
Chaowei Zhang, Kerry Reid, Arthur F. Sands, Antoine Fraimout, Mikkel Heide Schierup, Juha Merila
Summary: Mutation rate is a critical parameter in population genetics, but accurate estimates for wild organisms are limited. This study estimated mutation rates in two marine populations of nine-spined stickleback using pedigrees, whole-genome resequencing, and a high-quality reference genome. The results showed high levels of parental mosaicism and increased estimated divergence times after recalibration with the mutation rate.
MOLECULAR BIOLOGY AND EVOLUTION
(2023)
Article
Pediatrics
Jingwen Liang, Zhuoheng Yu, Zhangxing Wang, Jianxia Chen, Yihuan Liu, Zhaoqing Yin, Ruihuan Xu
Summary: By performing trio-based whole-exome sequencing, we identified clinically relevant gene variants associated with non-syndromic hearing loss in a Chinese family. We also found mutations in TMPRSS3, DCAF17, and ZNF276 genes, which may have potential relevance to hearing loss.
FRONTIERS IN PEDIATRICS
(2022)
Article
Biochemistry & Molecular Biology
Mateusz Dawidziuk, Anna Kutkowska-Kazmierczak, Ewelina Bukowska-Olech, Marta Jurek, Ewa Kalka, Dorothy Lys Guilbride, Mariusz Ireneusz Furmanek, Monika Bekiesinska-Figatowska, Jerzy Bal, Pawel Gawlinski
Summary: Actin molecules are essential for embryonic development and play a role in maintaining cytoskeletal structures in the ear, contributing to hearing. Baraitser-Winter Syndrome (B-WS) is a rare genetic disorder caused by mutations in ACTB or ACTG1 genes. This study identifies a patient with a mutated ACTG1 gene, exhibiting typical B-WS traits, sensorineural deafness, as well as previously unreported brachycephaly and complete absence of speech. The study suggests that ACTG1-related non-syndromic DFNA20/A26 deafness is a manifestation of undiagnosed ACTG1-related B-WS.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Otorhinolaryngology
Chen Pan, Yunmei Zhang, Siqi Yang, Chun Chen, Jinxin Wang, Chen Shi, Yafeng Yu
Summary: The study identified a novel MYH9 mutation associated with hearing loss, providing important insights for gene function research and genetic consultation.
EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Eugenio Lopez-Cortegano, Rory J. Craig, Jobran Chebib, Toby Samuels, Andrew D. Morgan, Susanne A. Kraemer, Katharina B. Boendel, Rob W. Ness, Nick Colegrave, Peter D. Keightley
Summary: De novo mutations play a crucial role in evolution by providing genetic variation, but studying them is challenging and often limited to model species, leading to a restricted understanding of mutation rate evolution among closely related species. Through a mutation accumulation experiment and comparative analysis between Chlamydomonas incerta and Chlamydomonas reinhardtii, researchers found variability in the mutation rate and differing mutation spectra, indicating similarities in genomic factors influencing mutation rate but a greater divergence in mutation spectra between the two species.
MOLECULAR BIOLOGY AND EVOLUTION
(2021)
Article
Genetics & Heredity
Ang Li, Siwen Liu, Peng Zhang, Xintong Hu, Guiying Li, Weiyue Gu, Yanfang Jiang
Summary: This study identified a novel mutation in the SIX1 gene that is associated with NS-UHL in a three-generation Chinese family. Bioinformatics analysis confirmed the pathogenicity of this mutation and its impact on the structure of the SIX1 protein.
FRONTIERS IN GENETICS
(2022)
Article
Genetics & Heredity
Wei-Qian Wang, Xue Gao, Sha-Sha Huang, Dong-Yang Kang, Jin-Cao Xu, Kun Yang, Ming-Yu Han, Xin Zhang, Su-Yan Yang, Yong-Yi Yuan, Pu Dai
Summary: This study conducted a comprehensive investigation of the LOXHD1 gene in Chinese NSHL patients, identifying numerous novel causative variants and highlighting the high variability of this gene in the Chinese population. These findings have significant implications for molecular diagnosis and genetic counseling.
FRONTIERS IN GENETICS
(2022)
Article
Medical Laboratory Technology
Luming Wang, Yue Zhang, Qiuxia Xue, Pinghua Huang, Xiaodan Liu
Summary: This study identified novel mutations of the MYO15A gene associated with ARNSHL in a Chinese family, expanding the MYO15A pathogenic mutation spectrum.
JOURNAL OF CLINICAL LABORATORY ANALYSIS
(2022)
Article
Genetics & Heredity
Chiara Chiereghin, Michela Robusto, Lucia Mauri, Paola Primignani, Pierangela Castorina, Umberto Ambrosetti, Stefano Duga, Rosanna Asselta, Giulia Solda
Summary: Inherited hearing loss is highly heterogeneous both clinically and genetically, with significant differences in the spectrum of deafness-causing genetic variants among different populations. By utilizing genome-wide linkage analysis and exome sequencing, this study identified the SLC22A4 gene as a significant contributor to ARSNHL in the Northwest African population. This represents the first independent replication highlighting the importance of SLC22A4 and the p.C113Y mutation in ARSNHL.
FRONTIERS IN GENETICS
(2021)