Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome
Abstract: Fusion of single-nucleated myoblasts is essential for the formation of multinucleated myocytes. Mechanisms that regulate myoblast fusion have been a focus of recent
studies.Transmembrane protein 8 (TMEM8C), also known as myomaker, is a highly conserved muscle-specific transmembrane protein encoded by the MYMK gene.
The protein is expressed during early muscle development. Mymk-null mice die soon after birth because of skeletal muscle deficiency. In these mice, skeletal muscle tissue is present
but consists of a smaller number of mononucleated cells indicating failure of myoblast cell fusion. Myomaker is also expressed during muscle regeneration when it coordinates
fusion of satellite cells with residual muscle fibers to regenerate the damaged muscle tissue. In the absence of myomaker, adult mouse muscle tissue is unable to
regenerate.
In humans, mutations in the MYMK gene have recently been described in 8 individuals (aged 7–37 years) from 3 families with Carey-Fineman-Ziter syndrome (CFZS), a syndrome
encompassing a congenital myopathy with marked facial weakness and Pierre Robin sequence, among other consistent features.
Here, we report an additional and the oldest known patient-bearing mutations in the MYMK gene, identified through whole-exome sequencing (WES). We provide insights into disease
progression, as well as ascertain features associated with the disorder
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- Extent
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Online-Ressource
- Language
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Englisch
- Notes
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Neurology. - 4, 2 (2018) , e226, ISSN: 2376-7839
- Event
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Veröffentlichung
- (where)
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Freiburg
- (who)
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Universität
- (when)
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2019
- Creator
- DOI
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10.1212/nxg.0000000000000226
- URN
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urn:nbn:de:bsz:25-freidok-1479952
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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14.08.2025, 10:58 AM CEST
Data provider
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Alrohaif, Hadil
- Töpf, Ana
- Evangelista, Teresinha
- Lek, Monkol
- McArthur, Daniel
- Lochmüller, Hanns
- Universität
Time of origin
- 2019
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