Case report: Compound heterozygous nonsense PCDH15 variant and a novel deep ‐intronic variant in a Chinese child with profound hearing loss
ConclusionOur genetic test results provided precise genetic counseling and prenatal diagnosis for this family, and our findings highlight the power of WGS for detecting deep-intronic variants in patients with undiagnosed rare diseases. Additionally, this case expands the variant spectrum of thePCDH15 gene and our results support the extremely low carrier frequency of c.733C>T in the Chinese population. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 26, 2023 Category: Genetics & Stem Cells Authors: Ziying Yang,
Minhong Huang,
Xiuxiu Wei,
Jun Sun,
Fuping Zhang Tags: CLINICAL REPORT Source Type: research
Generation of the induced pluripotent stem cell line SFMUi001-A from a patient with usher syndrome type 2 caused by biallelic variants in the USH2A gene
In this study, we isolated peripheral blood mononuclear cells from a patient with USH2. The pluripotency of induced cells was verified by the presence of cell surface markers, the expression of pluripotent genes, and the formation of teratomas. The generation of this induced pluripotent stem cell line provides an effective way to study USH2, such as disease modeling and drug screening. Usher syndrome type 2 (USH2) is a genetic disease mainly caused by biallelic variants in the USH2A gene. Patients usually present with progressive night blindness, reduced visual field, and then reduced central vision. Patients with USH2 als...
Source: Cell Research - May 1, 2023 Category: Cytology Authors: Shidong Qiu Xiaohui Zhang Lei Zhang Zengxiang Liu Luanluan Wang Zi-Bing Jin Peng Xiao Source Type: research
Generation and characterization of a human iPSC line (JUFMDOi007-A) from a patient with Usher syndrome due to mutation in USH2A
We report the generation of a patient-derived USH2A iPSC line with compound mutations c.1907_1912ATGTTT > TCACAG (p.D636V + V637T + C638G) and c.8328_8329delAA (p.L2276fs*12). The iPSC showed the expression of pluripotency markers, the ability to differentiate into three germ layers in vitro, and USH2A mutations with normal karyotype.PMID:37099934 | DOI:10.1016/j.scr.2023.103100 (Source: Cell Research)
Source: Cell Research - April 26, 2023 Category: Cytology Authors: Takao Ukaji Mikako Takahashi-Shibata Daisuke Arai Harumi Tsutsumi Shori Tajima Wado Akamatsu Fumihiko Matsumoto Katsuhisa Ikeda Shin-Ichi Usami Kazusaku Kamiya Source Type: research
A Novel Biallelic Variant in < i > CDH23 < /i > Gene in a Family with Atypical USH1D Manifestation: A Literature Review and Investigation of Genotype-Phenotype Correlation
Conclusion: By reporting a novel damaging variant, we expand the mutational spectrum of theCDH23 gene that leads to atypical USH1D. Also, reviewing the literature shows that, contrary to previous claims, different genotypes occur in theCDH23 gene allelic disorders, and there is no clear-cut genotype-phenotype correlation.Audiol Neurotol (Source: Audiology and Neurotology)
Source: Audiology and Neurotology - April 21, 2023 Category: Audiology Source Type: research
Curbing Disparities in Lung Transplant, One Patient at a Time
There is a perceived notion surrounding the quality of life for people with disabilities.Denying transplant to candidates constitutes a discriminatory practice and puts this already vulnerable population at a disadvantage.Here we describe a case of a young patient with Usher syndrome who successfully underwent a Heart and Lung transplant. (Source: The Journal of Heart and Lung Transplantation)
Source: The Journal of Heart and Lung Transplantation - April 1, 2023 Category: Transplant Surgery Authors: N. Narula, C. Doherty, J. Villalpando, L. Chhatwani, G. Dhillon Tags: (1182) Source Type: research
< em > The Future of Schizophrenia Psychopharmacotherapy < /em > : More Antipsychotic Atypicality? Guess So!
Psychopharmacol Bull. 2023 Feb 28;53(1):55-57.ABSTRACTNo single neurotransmitter aberration could explain the heterogeneity of schizophrenia syndrome and thus, treatment strategies capitalizing solely on a single neurotransmitter system (e.g., DA blockade) is less likely to be fully successful on clinical grounds. Hence, there is a pressing need to develop newer antipsychotics above and beyond DA antagonism. In this regard, authors brief on five agents that sound pretty promising and might usher in a new sparkle in the psychopharmacotherapy of schizophrenia. This paper is a sequel for authors' previous article on future of...
Source: Psychopharmacology Bulletin - March 6, 2023 Category: Psychiatry & Psychology Authors: Ahmed Naguy Saxby Pridmore Bibi Alamiri Source Type: research
