New splice site mutations in MYO7A causing Usher syndrome type 1: a study on a Chinese consanguineous family
ConclusionIn the three-generation Chinese consanguineous family with USH1, c.5648G > A(rs111033215) and c.6238-1G > C mutations inMYO7A are most likely associated with the disease. Our findings expand the mutational spectrum ofMYO7A, which will enhance the understanding of the genetic abnormalities in USH1 and provide more evidence for future investigations on therapeutic strategies such as precise gene replacement or gene editing. (Source: International Ophthalmology)
Source: International Ophthalmology - December 9, 2022 Category: Opthalmology Source Type: research
Molecular etiology study of hearing loss in 13 Chinese Han families
Hearing loss affecting about 2/1000 newborns is the most common congenital disease. Genetic defects caused approximately 70% of patients who have non-syndromic hearing loss. We recruited 13 Chinese Han deafness families who tested negative for GJB2, SLC26A4, and mitochondrial 12S rRNA. The probands of each family were performed whole-exome sequencing (WES) or targeted next-generation sequencing (NGS) for known deafness genes to study for pathogenic causes. We found four novel mutations of CDH23, one novel mutation of MYO15A, one novel mutation of TMC1, one novel mutation of PAX3, and one novel mutation of ADGRV1, one novel...
Source: Frontiers in Neurology - November 23, 2022 Category: Neurology Source Type: research
Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa
Usher syndrome (USH) is an autosomal recessive disorder primarily responsible for deaf-blindness. Patients with subtype Usher syndrome type 1 (USH1) typically experience congenital sensorineural hearing loss, ... (Source: BMC Ophthalmology)
Source: BMC Ophthalmology - November 16, 2022 Category: Opthalmology Authors: Nelson Chen, Hane Lee, Angela H. Kim, Pei-Kang Liu, Eugene Yu-Chuan Kang, Yun-Ju Tseng, Go Hun Seo, Rin Khang, Laura Liu, Kuan-Jen Chen, We-Chi Wu, Meng-Chang Hsiao and Nan-Kai Wang Tags: Case report Source Type: research
Prevalence and associated factors of cystoid macular edema in children with early onset inherited retinal dystrophies
CONCLUSIONS: Our results show that 31.7% of children with EORD who underwent OCT have macular edema. CME prevalence was found to be relatively higher in children with Usher syndrome. Autosomal recessive was the most prevalent inheritance identified in the EORD group as well as in the CME group. Additional prospective research is needed to assess the efficacy of early CME treatment in pediatric EORD patients.PMID:36317312 | DOI:10.1177/11206721221136318 (Source: European Journal of Ophthalmology)
Source: European Journal of Ophthalmology - November 1, 2022 Category: Opthalmology Authors: Ravid Ben-Avi Antonio Rivera Karen Hendler Dror Sharon Eyal Banin Samer Khateb Claudia Yahalom Source Type: research
Prevalence and associated factors of cystoid macular edema in children with early onset inherited retinal dystrophies
CONCLUSIONS: Our results show that 31.7% of children with EORD who underwent OCT have macular edema. CME prevalence was found to be relatively higher in children with Usher syndrome. Autosomal recessive was the most prevalent inheritance identified in the EORD group as well as in the CME group. Additional prospective research is needed to assess the efficacy of early CME treatment in pediatric EORD patients.PMID:36317312 | DOI:10.1177/11206721221136318 (Source: European Journal of Ophthalmology)
Source: European Journal of Ophthalmology - November 1, 2022 Category: Opthalmology Authors: Ravid Ben-Avi Antonio Rivera Karen Hendler Dror Sharon Eyal Banin Samer Khateb Claudia Yahalom Source Type: research
Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness
Conclusion: The next-generation sequencing technique allows a precise molecular diagnosis of diseases with high genetic heterogeneity, such as hereditary deafness, while this was the only symptom presented by the patient at the time of analysis. The NGS panel, in which genes responsible for both syndromic and non-syndromic hereditary deafness were included, was essential to reach the diagnosis in such a young patient. Early detection of the pathogenic variant in the WFS1 gene allowed us to anticipate the natural evolution of the disease and offer the most appropriate management to the patient. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - October 18, 2022 Category: Genetics & Stem Cells Source Type: research
9.3 Meals, Mindfulness, and Moving Forward (M3): Multimodal Engagement of Young People With First-Episode/Early Psychosis
Few studies on lifestyle interventions for individuals with first-episode psychosis (FEP) exist. The Meals, Mindfulness, and Moving Forward (M3) intervention was designed by a multidisciplinary team involving partnership with those with lived experience of FEP. M3 supports young people ’s functional recovery, is intended to improve cardiometabolic status (particularly for those on second-generation antipsychotics), and reduce symptoms. The 3 aims of this study are to: 1) examine program adherence; 2) measure change in metabolic syndrome risk parameters and symptoms; and 3) analy ze qualitatively study participant experie...
Source: Journal of the American Academy of Child and Adolescent Psychiatry - October 1, 2022 Category: Psychiatry Authors: Craigan Todd Usher Source Type: research
Inherited causes of combined vision and hearing loss: clinical features and molecular genetics
Br J Ophthalmol. 2022 Sep 26:bjophthalmol-2022-321790. doi: 10.1136/bjo-2022-321790. Online ahead of print.ABSTRACTCombined 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 disorder...
Source: The British Journal of Ophthalmology - September 26, 2022 Category: Opthalmology Authors: Thales Antonio Cabral de Guimaraes Elizabeth Arram Ahmed F Shakarchi Michalis Georgiou Michel Michaelides Source Type: research
Inherited causes of combined vision and hearing loss: clinical features and molecular genetics
Br J Ophthalmol. 2022 Sep 26:bjophthalmol-2022-321790. doi: 10.1136/bjo-2022-321790. Online ahead of print.ABSTRACTCombined 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 disorder...
Source: The British Journal of Ophthalmology - September 26, 2022 Category: Opthalmology Authors: Thales Antonio Cabral de Guimaraes Elizabeth Arram Ahmed F Shakarchi Michalis Georgiou Michel Michaelides Source Type: research
Genetic Characteristics and Variation Spectrum of USH2A-Related Retinitis Pigmentosa and Usher Syndrome
Conclusion: USH2A-related East Asian-specific founder and hot spot mutations were the major causes for Chinese RP and USH patients. Our study systematically delineated the genotype spectrum of USH2A-IRD, enabled accurate genetic diagnosis, and provided East Asian and other ethnicities with baseline data of a Chinese origin, which would better serve genetic counseling and therapeutic targets selection. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - August 30, 2022 Category: Genetics & Stem Cells Source Type: research
Baseline Microperimetry and OCT in the RUSH2A Study: Structure-Function Association and Correlation with Disease Severity
Usher syndrome is the leading cause of autosomal recessive deaf-blindness and is genetically heterogeneous.1,2 The most common form of Usher syndrome (56-67%) is Usher syndrome type 2 (USH2), with mild/moderate congenital hearing impairment and inherited retinal degeneration (IRD) beginning in the first or second decade.3,4 The gene most commonly associated with USH2 is USH2A, which accounts for 57-80% of USH2 patients.5,6 Retinitis Pigmentosa (RP) in USH2A shows primary rod and secondary cone photoreceptor degeneration followed by retinal pigment epithelial (RPE) degeneration. (Source: American Journal of Ophthalmology)
Source: American Journal of Ophthalmology - August 22, 2022 Category: Opthalmology Authors: Eleonora M. Lad, Jacque L. Duncan, Wendi Liang, Maureen G. Maguire, Allison R. Ayala, Isabelle Audo, David G. Birch, Joseph Carroll, Janet K. Cheetham, Todd A. Durham, Abigail T. Fahim, Jessica Loo, Zengtian Deng, Dibyendu Mukherjee, Elise Heon, Robert B. Tags: Original Articles Source Type: research
Baseline Microperimetry and OCT in the RUSH2A Study: Structure −Function Association and Correlation With Disease Severity
Usher syndrome is the leading cause of autosomal recessive deaf-blindness and is genetically heterogeneous.1,2 The most common form of Usher syndrome (56%-67%) is Usher syndrome type 2 (USH2), with mild/moderate congenital hearing impairment and inherited retinal degeneration (IRD) beginning in the first or second decade.3,4 The gene most commonly associated with USH2 is USH2A, which accounts for 57% to 80% of USH2 patients.5,6 Retinitis pigmentosa (RP) in USH2A shows primary rod and secondary cone photoreceptor degeneration followed by retinal pigment epithelial (RPE) degeneration. (Source: American Journal of Ophthalmology)
Source: American Journal of Ophthalmology - August 22, 2022 Category: Opthalmology Authors: Eleonora M. Lad, Jacque L. Duncan, Wendi Liang, Maureen G. Maguire, Allison R. Ayala, Isabelle Audo, David G. Birch, Joseph Carroll, Janet K. Cheetham, Todd A. Durham, Abigail T. Fahim, Jessica Loo, Zengtian Deng, Dibyendu Mukherjee, Elise Heon, Robert B. Tags: Original Articles Source Type: research
