Novel pathogenic WHRN variant causing hearing loss in a moroccan family
CONCLUSION: We used whole exome sequencing to find a homozygous WHRN gene variant in a Moroccan family. Numerous bioinformatics methods predict that this modification might result in a change in the WHRN protein's structure.PMID:37924449 | DOI:10.1007/s11033-023-08901-8 (Source: Molecular Biology Reports)
Source: Molecular Biology Reports - November 4, 2023 Category: Molecular Biology Authors: Imane AitRaise Ghita Amalou Salaheddine Redouane Hicham Charoute Khalid Snoussi Houria Abdelghaffar Crystel Bonnet Christine Petit Abdelhamid Barakat Source Type: research
Novel pathogenic WHRN variant causing hearing loss in a moroccan family
CONCLUSION: We used whole exome sequencing to find a homozygous WHRN gene variant in a Moroccan family. Numerous bioinformatics methods predict that this modification might result in a change in the WHRN protein's structure.PMID:37924449 | DOI:10.1007/s11033-023-08901-8 (Source: Mol Biol Cell)
Source: Mol Biol Cell - November 4, 2023 Category: Molecular Biology Authors: Imane AitRaise Ghita Amalou Salaheddine Redouane Hicham Charoute Khalid Snoussi Houria Abdelghaffar Crystel Bonnet Christine Petit Abdelhamid Barakat Source Type: research
The effects of ush2a gene knockout on vesicle transport in photoreceptors
Gene. 2023 Oct 7:147885. doi: 10.1016/j.gene.2023.147885. Online ahead of print.ABSTRACTUSH2A (Usher syndrome type 2A) gene mutations are the predominant cause of Usher syndrome type 2, characterized by sensorineural hearing loss and retinitis pigmentosa (RP), and also significant contributors to non-syndromic RP. To date, there is a lack of definitive therapeutic interventions to mitigate the associated disorders caused by USH2A mutations, and the precise pathogenic mechanisms underlying their onset remain unclear. In the present study, we utilized the ush2a knockout zebrafish model to investigate the pathological mechani...
Source: Gene - October 9, 2023 Category: Genetics & Stem Cells Authors: Shanshan Han Qiong Wang Meiqi Cheng Yue Hu Pei Liu Wanle Hou Liang Liang Source Type: research
The effects of ush2a gene knockout on vesicle transport in photoreceptors
Gene. 2023 Oct 7:147885. doi: 10.1016/j.gene.2023.147885. Online ahead of print.ABSTRACTUSH2A (Usher syndrome type 2A) gene mutations are the predominant cause of Usher syndrome type 2, characterized by sensorineural hearing loss and retinitis pigmentosa (RP), and also significant contributors to non-syndromic RP. To date, there is a lack of definitive therapeutic interventions to mitigate the associated disorders caused by USH2A mutations, and the precise pathogenic mechanisms underlying their onset remain unclear. In the present study, we utilized the ush2a knockout zebrafish model to investigate the pathological mechani...
Source: Gene - October 9, 2023 Category: Genetics & Stem Cells Authors: Shanshan Han Qiong Wang Meiqi Cheng Yue Hu Pei Liu Wanle Hou Liang Liang Source Type: research
Inherited causes of combined vision and hearing loss: clinical features and molecular genetics
Combined vision and hearing loss, also known as dual sensory impairment, can occur in several genetic conditions, including ciliopathies such as Usher and Bardet-Biedl syndrome, mitochondrial DNA disorders and systemic diseases, such as CHARGE, Stickler, Waardenburg, Alport and Alstrom syndrome. The retinal phenotype may point to the diagnosis of such disorders. Herein, we aim to provide a comprehensive review of the molecular genetics and clinical features of the most common non-chromosomal inherited disorders to cause dual sensory impairment. (Source: British Journal of Ophthalmology)
Source: British Journal of Ophthalmology - September 21, 2023 Category: Opthalmology Authors: Guimaraes, T. A. C. d., Arram, E., Shakarchi, A. F., Georgiou, M., Michaelides, M. Tags: Review Source Type: research
Expression of two major isoforms of MYO7A in the retina: Considerations for gene therapy of Usher syndrome type 1B
Vision Res. 2023 Aug 14;212:108311. doi: 10.1016/j.visres.2023.108311. Online ahead of print.ABSTRACTUsher syndrome type 1B (USH1B) is a deaf-blindness disorder, caused by mutations in the MYO7A gene, which encodes the heavy chain of an unconventional actin-based motor protein. Here, we examined the two retinal isoforms of MYO7A, IF1 and IF2. We compared 3D models of the two isoforms and noted that the 38-amino acid region that is present in IF1 but absent from IF2 affects the C lobe of the FERM1 domain and the opening of a cleft in this potentially important protein binding domain. Expression of each of the two isoforms o...
Source: Vision Research - August 16, 2023 Category: Opthalmology Authors: W Blake Gilmore Nan W Hultgren Abhishek Chadha Sonia B Barocio Joyce Zhang Oksana Kutsyr Miguel Flores-Bellver M Valeria Canto-Soler David S Williams Source Type: research
Expression of two major isoforms of MYO7A in the retina: Considerations for gene therapy of Usher syndrome type 1B
Vision Res. 2023 Aug 14;212:108311. doi: 10.1016/j.visres.2023.108311. Online ahead of print.ABSTRACTUsher syndrome type 1B (USH1B) is a deaf-blindness disorder, caused by mutations in the MYO7A gene, which encodes the heavy chain of an unconventional actin-based motor protein. Here, we examined the two retinal isoforms of MYO7A, IF1 and IF2. We compared 3D models of the two isoforms and noted that the 38-amino acid region that is present in IF1 but absent from IF2 affects the C lobe of the FERM1 domain and the opening of a cleft in this potentially important protein binding domain. Expression of each of the two isoforms o...
Source: Vision Research - August 16, 2023 Category: Opthalmology Authors: W Blake Gilmore Nan W Hultgren Abhishek Chadha Sonia B Barocio Joyce Zhang Oksana Kutsyr Miguel Flores-Bellver M Valeria Canto-Soler David S Williams Source Type: research
Expression of two major isoforms of MYO7A in the retina: Considerations for gene therapy of Usher syndrome type 1B
Vision Res. 2023 Aug 14;212:108311. doi: 10.1016/j.visres.2023.108311. Online ahead of print.ABSTRACTUsher syndrome type 1B (USH1B) is a deaf-blindness disorder, caused by mutations in the MYO7A gene, which encodes the heavy chain of an unconventional actin-based motor protein. Here, we examined the two retinal isoforms of MYO7A, IF1 and IF2. We compared 3D models of the two isoforms and noted that the 38-amino acid region that is present in IF1 but absent from IF2 affects the C lobe of the FERM1 domain and the opening of a cleft in this potentially important protein binding domain. Expression of each of the two isoforms o...
Source: Vision Research - August 16, 2023 Category: Opthalmology Authors: W Blake Gilmore Nan W Hultgren Abhishek Chadha Sonia B Barocio Joyce Zhang Oksana Kutsyr Miguel Flores-Bellver M Valeria Canto-Soler David S Williams Source Type: research
Hearing Loss with Vision Impairment: Usher Syndrome. A Case of the East Democratic Republic of Congo
AbstractUsher syndrome (USH) is a clinically heterogeneous condition characterized by sensorineural hearing loss, progressive retinal degeneration, and vestibular dysfunction. There are two phenotypically recognizable types of Usher syndrome described in the literature. Usher type 1 individual have no vestibular function and profound sensorineural hearing loss. Usher type 2 individuals have a normal vestibular function and mild-to-severe hearing loss with visual impairment that is presented later in life. We are reporting a case of 35 years old gentleman with hearing loss and visual impairment presented to the ENT clinic a...
Source: Indian Journal of Otolaryngology and Head and Neck Surgery - July 17, 2023 Category: ENT & OMF Source Type: research
Detailed Clinical, Ophthalmic and Genetic Characterization of ADGRV1-Associated Usher syndrome
To present the clinical characteristics, retinal features, natural history, and genetics of ADGRV1-Usher syndrome (USH). (Source: American Journal of Ophthalmology)
Source: American Journal of Ophthalmology - July 6, 2023 Category: Opthalmology Authors: Malena Daich Varela, Shiao Wei Wong, Gulunay Kiray, Patricio G Schlottmann, Gavin Arno, Amjaad N Abu Shams, Omar A Mahroo, Andrew R Webster, Alaa AlTalbishi, Michel Michaelides Source Type: research
Detailed Clinical, Ophthalmic, and Genetic Characterization of ADGRV1-Associated Usher Syndrome
To present the clinical characteristics, retinal features, natural history, and genetics of ADGRV1-Usher syndrome (USH). (Source: American Journal of Ophthalmology)
Source: American Journal of Ophthalmology - July 6, 2023 Category: Opthalmology Authors: Malena Daich Varela, Shiao Wei Wong, Gulunay Kiray, Patricio G. Schlottmann, Gavin Arno, Amjaad N. Abu Shams, Omar A. Mahroo, Andrew R. Webster, Alaa AlTalbishi, Michel Michaelides Source Type: research
< em > USH2A < /em > mutational spectrum causing syndromic and non-syndromic retinal dystrophies in a large cohort of Mexican patients
CONCLUSIONS: Our work expands the USH2A mutational profile by identifying 20 novel pathogenic variants causing syndromic and non-syndromic retinal dystrophy. The prevalent c.2299delG allele is shown to arise from a founder effect. Our results emphasize the usefulness of molecular screening in underrepresented populations for a better characterization of the molecular spectrum of common monogenic diseases.PMID:37287646 | PMC:PMC10243674 (Source: Molecular Vision)
Source: Molecular Vision - June 8, 2023 Category: Molecular Biology Authors: Vianey Ordo ñez-Labastida Oscar F Chacon-Camacho Victor R Lopez-Rodriguez Juan C Zenteno Source Type: research
