DNM2 mutations in Chinese Han patients with centronuclear myopathy.
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| Title: | DNM2 mutations in Chinese Han patients with centronuclear myopathy. |
|---|---|
| Authors: | Lin, Pengfei, Liu, Xinhong, Zhao, Dandan, Dai, Tingjun, Wu, Huamin, Gong, Yaoqin, Yan, Chuanzhu |
| Source: | Neurological Sciences. Jun2016, Vol. 37 Issue 6, p995-998. 4p. |
| Subjects: | Muscle diseases, Congenital disorders, Pathology, Human abnormalities, Medical records |
| Geographic Terms: | China |
| Abstract: | Centronuclear myopathy (CNM) is a congenital myopathy characterized by an abnormally high number of muscle fibers with centrally located nuclei. Autosomal-dominant centronuclear myopathy-1 (CNM1) results from mutations in the dynamin 2 gene (DNM2) and accounts for approximately 50 % of all CNM cases. Up to now, around 35 mutations of DNM2 gene have been identified in CNM; however, the underlying molecular mechanism of DNM2 mutation in the pathology of CNM remains elusive, and the standard clinical characteristics and the genotype-phenotype correlation of DNM2 gene mutation with CNM have not yet been defined. Here, we report the clinical characteristics, molecular diagnosis strategy, and DNM2 gene mutations of four Chinese Han patients with CNM. Congenital myopathy-targeted next-generation sequencing (NGS) was applied to sequence the regions of the genome that contain all the coding regions of all known CNM genes and other congenital myopathy genes. We found potential DNM2 mutations in all four of the patients. Further targeted Sanger DNA sequencing of DNM2 found the 1106G>A (p.R369Q) mutation in patients 1 and 2, the c.1393C>T (p.R465W) mutation in patient 3, and the c.1565G>A (p.R522H) mutation in patient 4, all of which were reported previously to be causative mutations of DNM2-related CNM. Our results suggest that the combination of targeted NGS and Sanger sequencing is an effective, rapid, and reliable strategy for the molecular diagnosis of CNM and other genetically heterogeneous disorders. [ABSTRACT FROM AUTHOR] |
| Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) | |
| Database: | Psychology and Behavioral Sciences Collection |
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| Items | – Name: Title Label: Title Group: Ti Data: DNM2 mutations in Chinese Han patients with centronuclear myopathy. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Lin%2C+Pengfei%22">Lin, Pengfei</searchLink><br /><searchLink fieldCode="AR" term="%22Liu%2C+Xinhong%22">Liu, Xinhong</searchLink><br /><searchLink fieldCode="AR" term="%22Zhao%2C+Dandan%22">Zhao, Dandan</searchLink><br /><searchLink fieldCode="AR" term="%22Dai%2C+Tingjun%22">Dai, Tingjun</searchLink><br /><searchLink fieldCode="AR" term="%22Wu%2C+Huamin%22">Wu, Huamin</searchLink><br /><searchLink fieldCode="AR" term="%22Gong%2C+Yaoqin%22">Gong, Yaoqin</searchLink><br /><searchLink fieldCode="AR" term="%22Yan%2C+Chuanzhu%22">Yan, Chuanzhu</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Neurological+Sciences%22">Neurological Sciences</searchLink>. Jun2016, Vol. 37 Issue 6, p995-998. 4p. – Name: Subject Label: Subjects Group: Su Data: <searchLink fieldCode="DE" term="%22Muscle+diseases%22">Muscle diseases</searchLink><br /><searchLink fieldCode="DE" term="%22Congenital+disorders%22">Congenital disorders</searchLink><br /><searchLink fieldCode="DE" term="%22Pathology%22">Pathology</searchLink><br /><searchLink fieldCode="DE" term="%22Human+abnormalities%22">Human abnormalities</searchLink><br /><searchLink fieldCode="DE" term="%22Medical+records%22">Medical records</searchLink> – Name: SubjectGeographic Label: Geographic Terms Group: Su Data: <searchLink fieldCode="DE" term="%22China%22">China</searchLink> – Name: Abstract Label: Abstract Group: Ab Data: Centronuclear myopathy (CNM) is a congenital myopathy characterized by an abnormally high number of muscle fibers with centrally located nuclei. Autosomal-dominant centronuclear myopathy-1 (CNM1) results from mutations in the dynamin 2 gene (DNM2) and accounts for approximately 50 % of all CNM cases. Up to now, around 35 mutations of DNM2 gene have been identified in CNM; however, the underlying molecular mechanism of DNM2 mutation in the pathology of CNM remains elusive, and the standard clinical characteristics and the genotype-phenotype correlation of DNM2 gene mutation with CNM have not yet been defined. Here, we report the clinical characteristics, molecular diagnosis strategy, and DNM2 gene mutations of four Chinese Han patients with CNM. Congenital myopathy-targeted next-generation sequencing (NGS) was applied to sequence the regions of the genome that contain all the coding regions of all known CNM genes and other congenital myopathy genes. We found potential DNM2 mutations in all four of the patients. Further targeted Sanger DNA sequencing of DNM2 found the 1106G>A (p.R369Q) mutation in patients 1 and 2, the c.1393C>T (p.R465W) mutation in patient 3, and the c.1565G>A (p.R522H) mutation in patient 4, all of which were reported previously to be causative mutations of DNM2-related CNM. Our results suggest that the combination of targeted NGS and Sanger sequencing is an effective, rapid, and reliable strategy for the molecular diagnosis of CNM and other genetically heterogeneous disorders. [ABSTRACT FROM AUTHOR] – Name: AbstractSuppliedCopyright Label: Group: Ab Data: <i>Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.) |
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| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1007/s10072-016-2513-1 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 4 StartPage: 995 Subjects: – SubjectFull: Muscle diseases Type: general – SubjectFull: Congenital disorders Type: general – SubjectFull: Pathology Type: general – SubjectFull: Human abnormalities Type: general – SubjectFull: Medical records Type: general – SubjectFull: China Type: general Titles: – TitleFull: DNM2 mutations in Chinese Han patients with centronuclear myopathy. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Lin, Pengfei – PersonEntity: Name: NameFull: Liu, Xinhong – PersonEntity: Name: NameFull: Zhao, Dandan – PersonEntity: Name: NameFull: Dai, Tingjun – PersonEntity: Name: NameFull: Wu, Huamin – PersonEntity: Name: NameFull: Gong, Yaoqin – PersonEntity: Name: NameFull: Yan, Chuanzhu IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 06 Text: Jun2016 Type: published Y: 2016 Identifiers: – Type: issn-print Value: 15901874 Numbering: – Type: volume Value: 37 – Type: issue Value: 6 Titles: – TitleFull: Neurological Sciences Type: main |
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