Article
Neurosciences
Vito Luigi Colona, Enrico Bertini, Maria Cristina Digilio, Adele D'Amico, Antonio Novelli, Stefano Pro, Elisa Pisaneschi, Francesco Nicita
Summary: POLR3B gene encodes the RPC2 subunit of RNA polymerase III, and pathogenic variants are associated with various disorders, including hypomyelinating leukodystrophy and Charcot-Marie-Tooth syndrome type 1I. In this study, a new variant in the POLR3B gene was identified in a patient with developmental delay, epilepsy, and polyneuropathy.
Article
Cell Biology
Rinki Ratnapriya, Samuel G. Jacobson, Artur Cideciyan, Milton A. English, Alejandro J. Roman, Alexander Sumaroka, Rebecca Sheplock, Anand Swaroop
Summary: Despite advances in identifying causative genes, a family with dominant IRD was studied using whole exome sequencing. A novel pathogenic variant in the ARL3 gene was identified, further supporting its association with non-syndromic retinal degeneration.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Letter
Dermatology
B. A. Thompson, K. Dear, E. Donaldson, R. Nixon, I. M. Winship
Summary: The clear segregation of the TRPM3 variant in the clinical investigation of a family with debilitating centrofacial pruritus by exome sequencing strongly suggests a causal relationship.
CLINICAL AND EXPERIMENTAL DERMATOLOGY
(2022)
Article
Clinical Neurology
Sien H. Van Daele, Matthieu Moisse, Valerie Race, Amelie Van Eesbeeck, Liesbeth Keldermans, Sascha Vermeer, Hilde Van Esch, Kristl G. Claeys, Philip Van Damme
Summary: This study clinically evaluated a Belgian family with autosomal dominant inherited sensory ataxia and variable pyramidal involvement, identifying a rare variant in RNF170. No additional pathogenic variants in RNF170 were found in the in-house neuromuscular cohort.
EUROPEAN JOURNAL OF NEUROLOGY
(2022)
Article
Biotechnology & Applied Microbiology
Wen-Hsuan Wu, Yi-Ting Tsai, I-Wen Huang, Chia-Hua Cheng, Chun-Wei Hsu, Xuan Cui, Joseph Ryu, Peter M. J. Quinn, Salvatore Marco Caruso, Chyuang-Sheng Lin, Stephen H. Tsang
Summary: This study presents a CRISPR-based gene modification therapy for autosomal dominant retinitis pigmentosa, which has been validated in a humanized mouse model, demonstrating the effectiveness of the treatment and its potential application in other genetic diseases.
Article
Clinical Neurology
Adrian Rodriguez-Hernandez, Meagan Mayo, Lilibeth Jauregui, Pooja Patel
Summary: Charcot Marie Tooth (CMT) is a genetic disorder characterized by progressive motor and sensory neuropathy. It is caused by mutations in multiple genes, leading to a wide range of clinical presentations. A specific mutation in the GDAP1 gene is associated with both the axonal subtype (CMT2K) and the demyelinating subtype (CMT4A) of CMT, inherited in autosomal dominant and autosomal recessive patterns, respectively. The disease severity and onset vary depending on the inheritance pattern.
FRONTIERS IN NEUROLOGY
(2022)
Article
Genetics & Heredity
Yan-xia Huang, Chun-yan Gao, Chun-yan Zheng, Xu Chen, You-sheng Yan, Yong-qing Sun, Xing-yue Dong, Kai Yang, Dong-liang Zhang
Summary: A novel variant in the LRP6 gene was identified through whole-exome sequencing and in vitro experiments, which affected the maturation and phosphorylation of the protein encoded by this gene, potentially disrupting the Wnt signaling pathway. This study expanded the mutation spectrum of human LRP6 gene in tooth agenesis, providing insights into the functional significance of specific LRP6 variants.
FRONTIERS IN GENETICS
(2021)
Article
Genetics & Heredity
Min-Hua Tseng, Sung-Sen Yang, Chih-Chien Sung, Jhao-Jhuang Ding, Yu-Juei Hsu, Shih-Ming Chu, Shih-Hua Lin
Summary: We report a clinical case of a 1-year-old infant with HSMR features. Mutation screening revealed a novel R480L mutation in the CNNM2 gene, which potentially caused hypomagnesemia. Functional studies indicated that the R480L mutation impaired the interaction between CNNM2 and Mg2+-ATP, resulting in reduced Mg2+ efflux.
FRONTIERS IN GENETICS
(2022)
Article
Cell Biology
Shunlai Shang, Chao Wang, Lang Chen, Wanjun Shen, Yuansheng Xie, Wenge Li, Qinggang Li
Summary: In this study, a genetic detection system was established to improve the diagnosis accuracy of ADPKD. Different methods, including NGS, MLPA, targeted region sequencing, and Sanger sequencing, were combined to detect pathogenic genes. Several new mutations were identified.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Ange-Line Bruel, Antonio Vitobello, Isabelle Thiffault, Linda Manwaring, Marcia Willing, Pankaj B. Agrawal, Allan Bayat, Thomas M. Kitzler, Catherine A. Brownstein, Casie A. Genetti, Joseph Gonzalez-Heydrich, Parul Jayakar, Jacob W. Zyskind, Zehua Zhu, Clemence Vachet, Gena R. Wilson, Brianna Pruniski, Anne-Marie Goyette, Yannis Duffourd, Christel Thauvin-Robinet, Christophe Philippe, Laurence Faivre
Summary: The study confirms the important role of the ITSN1 gene in neurodevelopmental disorders such as autism. Truncating variants and missense variants in ITSN1 exhibit different patterns and symptoms in affected patients.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Clinical Neurology
Shuai Chen, Jin-Long Zou, Shuang He, Wei Li, Jie-Wen Zhang, Shu-Jian Li
Summary: This study reports two Chinese families with adult-onset autosomal dominant leukodystrophy (ADLD), which present clinical and neuroimaging features mimicking neuronal intranuclear inclusion disease (NIID). The families showed slowly progressive central nervous system symptoms and band-like hyperintensities at the cortico-medullary junction on brain MRI, typical for NIID. Additionally, transient hypoglycemia and dilated pupils were recorded for the first time in ADLD. Whole exome sequencing identified a duplication mutation involving the entire LMNB1 gene.
NEUROLOGICAL SCIENCES
(2022)
Article
Ophthalmology
Panfeng Wang, Pengsen Wu, Junwen Wang, Yiyan Zeng, Yi Jiang, Yingwei Wang, Shiqiang Li, Xueshan Xiao, Qingjiong Zhang
Summary: This study reports a new autosomal dominant ocular syndrome (BAMD) syndrome caused by monoallelic MAB21L1 pathogenic variants, which is completely different from COFG syndrome caused by biallelic variants in MAB21L1. The study suggests that heterozygous pathogenic variants in MAB21L1 account for the AD BAMD syndrome, and c.152 nucleotide is likely a mutation hot spot, with the residue p.Arg51 being critical for MAB21L1.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2023)
Article
Clinical Neurology
Juan Wang, Rongjuan Zhao, Hanshuai Cao, Zhaoxu Yin, Jing Ma, Yingming Xing, Wei Zhang, Xueli Chang, Junhong Guo
Summary: This study describes a novel autosomal dominant ERLIN2 pedigree causing hereditary spastic paraplegia (HSP) in a Chinese family and explores the possible mechanism of HSP caused by ERLIN2 variants. The researchers found that seven patients in the family presented with a pure spastic paraplegia phenotype with a gradually worsening course. Whole-exome sequencing and Sanger sequencing identified a new variant in exon 8 of the ERLIN2 gene, which increased ER stress and affected axonal development.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2023)
Article
Clinical Neurology
Patrick H. Luckett, Charlie Chen, Brian A. Gordon, Julie Wisch, Sarah B. Berman, Jasmeer P. Chhatwal, Carlos Cruchaga, Anne M. Fagan, Martin R. Farlow, Nick C. Fox, Mathias Jucker, Johannes Levin, Colin L. Masters, Hiroshi Mori, James M. Noble, Stephen Salloway, Peter R. Schofield, Adam M. Brickman, William S. Brooks, David M. Cash, Michael J. Fulham, Bernardino Ghetti, Clifford R. Jack, Jonathan Voeglein, William E. Klunk, Robert Koeppe, Yi Su, Michael Weiner, Qing Wang, Daniel Marcus, Deborah Koudelis, Nelly Joseph-Mathurin, Lisa Cash, Russ Hornbeck, Chengjie Xiong, Richard J. Perrin, Celeste M. Karch, Jason Hassenstab, Eric McDade, John C. Morris, Tammie L. S. Benzinger, Randall J. Bateman, Beau M. Ances
Summary: This study analyzed 19 biomarkers of Alzheimer's disease using hierarchical clustering and feature selection, and found that amyloid and tau measures were the primary predictors. Emerging biomarkers of neuronal integrity and inflammation showed weaker predictive ability.
ALZHEIMERS & DEMENTIA
(2023)
Article
Genetics & Heredity
Li Peng, Erkuan Dai, Haodong Xiao, Rulian Zhao, Yunqi He, Shujin Li, Mu Yang, Zhenglin Yang, Peiquan Zhao
Summary: In this study, a novel frameshift variant in the TSPAN12 gene related to FEVR was identified. The study revealed the molecular mechanism of this variant and provided valuable information for the molecular diagnosis of FEVR.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2022)
