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Your search keyword '"Zhang, Victor Wei"' showing total 13 results
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13 results on '"Zhang, Victor Wei"'

5. Multisystem Mitochondrial Disease Associated With a Mare m.10000G>A Mitochondrial tRNAGly (MT-TG) Variant

Author

Yang, Haiyan, Zhang, Victor Wei, Ai, Liang, Gan, Siyi, and Wu, Liwen

Subjects
Neurology, Neurology (clinical)
Abstract

BackgroundMitochondrial diseases are clinically heterogeneous, can occur at any age, and can manifest with a wide range of clinical symptoms. They can involve any organ or tissue, characteristically involve multiple systems, typically affecting organs that are highly dependent on aerobic metabolism, and making a definitive molecular diagnosis of a mitochondrial disorder is challenging.MethodsClinical data of the proband and his family members were gathered in a retrospective study. Whole-exome sequencing and full-length sequencing of the mitochondrial genome that were performed on peripheral blood, urine, and oral mucosa cells were applied for genetic analysis.ResultsIn this study, we reported a childhood-onset mitochondrial phenotype in a 13-year-old patient. Analysis of the next-generation sequencing data of the nuclear genome and the full-length sequencing of the mitochondrial genome revealed the rare m.10000G>A variant in MT-TG that was present at variable heteroplasmy levels across tissue types: 32.7% in the blood, 56.15% in urinary epithelial cells, and 27.3% in oral mucosa cells. No variant was found in the peripheral blood of his mother and sister. No pathogenic mutation of nDNA was found.ConclusionOur results added evidence that the de novo m.10000G>A variation in the highly conserved sequence of MT-TG appears to suggest a childhood-onset mitochondrial phenotype in the 13-year-old patient, thus broadening the genotypic interpretation of mitochondrial DNA-related diseases.

Published
2022
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8. Identification and Functional Characterization of a Novel Nonsense Variant in ARR3 in a Southern Chinese Family With High Myopia

Author

Yuan, Dejian, primary, Yan, Tizhen, additional, Luo, Shiqiang, additional, Huang, Jun, additional, Tan, Jianqiang, additional, Zhang, Jianping, additional, Zhang, Victor Wei, additional, Lan, Yueyuan, additional, Hu, Taobo, additional, Guo, Jing, additional, Huang, Mingwei, additional, and Zeng, Dingyuan, additional

Published
2021
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9. Clinical Utility of Rapid Exome Sequencing Combined With Mitochondrial DNA Sequencing in Critically Ill Pediatric Patients With Suspected Genetic Disorders

Author

Ouyang, Xuejun, primary, Zhang, Yu, additional, Zhang, Lijuan, additional, Luo, Jixuan, additional, Zhang, Ting, additional, Hu, Hui, additional, Liu, Lin, additional, Zhong, Lieqiang, additional, Zeng, Shaoying, additional, Xu, Pingyi, additional, Bai, Zhenjiang, additional, Wong, Lee-Jun, additional, Wang, Jing, additional, Wang, Chunli, additional, Wang, Bin, additional, and Zhang, Victor Wei, additional

Published
2021
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13. Case report: A novel mutation in TRPS 1 identified in a Chinese family with tricho-rhino-phalangeal syndrome I: A therapeutic challenge.

Author

Huang Q, Jiang C, Sun J, Xue J, and Zhang VW

Abstract

Tricho-rhino-phalangeal syndrome (TRPS) is a rare autosomal dominant malformation caused by mutations involving the TRPS 1 gene. Patients with TRPS exhibit distinctive craniofacial and skeletal abnormalities. This report presents three intra-familial cases with TRPS 1 gene mutations that showed the characteristic features of TRPS. A 13-year-old boy was admitted to Department of Endocrinology for the evaluation of short stature. Physical examination revealed that the boy had thin sparse hair, pear-shaped nose, protruding ears, small jaw and brachydactyly. A survey of his family history indicated that the boy's sister and mother shared the same clinical features. Radiological techniques demonstrated a different degree of skeletal abnormalities in these siblings. Next-generation sequencing and quantitative PCR were performed and showed a novel deletion mutation in exons 3-5 in the three familial cases, confirming the diagnosis of TRPS I. The healthy father did not carry the deletion mutation. Currently, there was no specific therapy for TRPS I; however, genetic consultation may be useful for family planning., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (© 2022 Huang, Jiang, Sun, Xue and Zhang.)

Published
2022
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