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- Publisher Website: 10.1038/srep26362
- Scopus: eid_2-s2.0-84971255107
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Article: Exome Sequencing and Gene Prioritization Correct Misdiagnosis in a Chinese Kindred with Familial Amyloid Polyneuropathy
Title | Exome Sequencing and Gene Prioritization Correct Misdiagnosis in a Chinese Kindred with Familial Amyloid Polyneuropathy |
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Authors | |
Issue Date | 2016 |
Publisher | Nature Publishing Group: Open Access Journals. The Journal's web site is located at http://www.nature.com/srep/index.html |
Citation | Scientific Reports, 2016, v. 6, p. article no. 26362 How to Cite? |
Abstract | Inherited neuropathies show considerable heterogeneity in clinical manifestations and genetic etiologies, and are therefore often difficult to diagnose. Whole-exome sequencing (WES) has been widely adopted to make definite diagnosis of unclear conditions, with proven efficacy in optimizing patients’ management. In this study, a large Chinese kindred segregating autosomal dominant polyneuropathy with incomplete penetrance was ascertained through a patient who was initially diagnosed as Charcot-Marie-Tooth disease. To investigate the genetic cause, forty-six living family members were genotyped by SNP microarrays, and one confirmed patient was subject to WES. Through systematic computational prioritization, we identified a missense mutation c.G148T in TTR gene which results in a p.V50L substitution known to cause transthyretin-related familial amyloid polyneuropathy. Co-segregation analysis and clinical follow-up confirmed the new diagnosis, which suggested new therapeutic options to the patients and informed high risk family members. This study confirms WES as a powerful tool in translational medicine, and further demostrates the practical utility of gene prioritization in narrowing the scope of causative mutation. |
Persistent Identifier | http://hdl.handle.net/10722/231247 |
ISSN | 2023 Impact Factor: 3.8 2023 SCImago Journal Rankings: 0.900 |
ISI Accession Number ID |
DC Field | Value | Language |
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dc.contributor.author | Chen, H | - |
dc.contributor.author | Zhou, X | - |
dc.contributor.author | Wang, J | - |
dc.contributor.author | Wang, X | - |
dc.contributor.author | Liu, L | - |
dc.contributor.author | Wu, S | - |
dc.contributor.author | Li, T | - |
dc.contributor.author | Chen, S | - |
dc.contributor.author | Yang, J | - |
dc.contributor.author | Sham, PC | - |
dc.contributor.author | Zhu, G | - |
dc.contributor.author | Zhang, X | - |
dc.contributor.author | Wang, B | - |
dc.date.accessioned | 2016-09-20T05:21:46Z | - |
dc.date.available | 2016-09-20T05:21:46Z | - |
dc.date.issued | 2016 | - |
dc.identifier.citation | Scientific Reports, 2016, v. 6, p. article no. 26362 | - |
dc.identifier.issn | 2045-2322 | - |
dc.identifier.uri | http://hdl.handle.net/10722/231247 | - |
dc.description.abstract | Inherited neuropathies show considerable heterogeneity in clinical manifestations and genetic etiologies, and are therefore often difficult to diagnose. Whole-exome sequencing (WES) has been widely adopted to make definite diagnosis of unclear conditions, with proven efficacy in optimizing patients’ management. In this study, a large Chinese kindred segregating autosomal dominant polyneuropathy with incomplete penetrance was ascertained through a patient who was initially diagnosed as Charcot-Marie-Tooth disease. To investigate the genetic cause, forty-six living family members were genotyped by SNP microarrays, and one confirmed patient was subject to WES. Through systematic computational prioritization, we identified a missense mutation c.G148T in TTR gene which results in a p.V50L substitution known to cause transthyretin-related familial amyloid polyneuropathy. Co-segregation analysis and clinical follow-up confirmed the new diagnosis, which suggested new therapeutic options to the patients and informed high risk family members. This study confirms WES as a powerful tool in translational medicine, and further demostrates the practical utility of gene prioritization in narrowing the scope of causative mutation. | - |
dc.language | eng | - |
dc.publisher | Nature Publishing Group: Open Access Journals. The Journal's web site is located at http://www.nature.com/srep/index.html | - |
dc.relation.ispartof | Scientific Reports | - |
dc.rights | This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. | - |
dc.title | Exome Sequencing and Gene Prioritization Correct Misdiagnosis in a Chinese Kindred with Familial Amyloid Polyneuropathy | - |
dc.type | Article | - |
dc.identifier.email | Zhou, X: zhouxy@hku.hk | - |
dc.identifier.email | Sham, PC: pcsham@hku.hk | - |
dc.identifier.authority | Sham, PC=rp00459 | - |
dc.description.nature | published_or_final_version | - |
dc.identifier.doi | 10.1038/srep26362 | - |
dc.identifier.scopus | eid_2-s2.0-84971255107 | - |
dc.identifier.hkuros | 266410 | - |
dc.identifier.volume | 6 | - |
dc.identifier.spage | article no. 26362 | - |
dc.identifier.epage | article no. 26362 | - |
dc.identifier.isi | WOS:000376234200001 | - |
dc.publisher.place | United Kingdom | - |
dc.identifier.issnl | 2045-2322 | - |