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  Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome

Nazaryan-Petersen, L., Oliveira, I. R., Mehrjouy, M. M., Mendez, J. M. M., Bak, M., Bugge, M., et al. (2019). Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome. Human Mutation, 40(8), 1057-1062. doi:10.1002/humu.23775.

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Nazaryan-Petersen_2019.pdf (Publisher version), 2MB
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© 2019 Wiley Periodicals, Inc.
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Nazaryan-Petersen, Lusine , Author
Oliveira, Inês R. , Author
Mehrjouy, Mana M. , Author
Mendez, Juan M. M. , Author
Bak, Mads, Author
Bugge, Merete, Author
Kalscheuer, Vera M.1, Author              
Bache, Iben, Author
Hancks, Dustin C. , Author
Tommerup, Niels , Author
Affiliations:
1Chromosome Rearrangements and Disease (Vera Kalscheuer), Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_2385702              

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Free keywords: chromothripsis, Moebius syndrome, PIK3CG, SEMA3A, SEMA3D
 Abstract: Moebius syndrome (MBS) is a congenital disorder caused by paralysis of the facial and abducens nerves. Although a number of candidate genes have been suspected, so far only mutations in PLXND1 and REV3L are confirmed to cause MBS. Here, we fine mapped the breakpoints of a complex chromosomal rearrangement (CCR) 46,XY,t(7;8;11;13) in a patient with MBS, which revealed 41 clustered breakpoints with typical hallmarks of chromothripsis. Among 12 truncated protein-coding genes, SEMA3A is known to bind to the MBS-associated PLXND1. Intriguingly, the CCR also truncated PIK3CG, which in silico interacts with REVL3 encoded by the other known MBS-gene REV3L, and with the SEMA3A/PLXND1 complex via FLT1. Additional studies of other complex rearrangements may reveal whether the multiple breakpoints in germline chromothripsis may predispose to complex multigenic disorders.

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Language(s): eng - English
 Dates: 2019-04-292019-08
 Publication Status: Published in print
 Pages: -
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 Table of Contents: -
 Rev. Type: -
 Identifiers: DOI: 10.1002/humu.23775
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Title: Human Mutation
  Other : Hum Mut
Source Genre: Journal
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Publ. Info: New York, N.Y. : Wiley-Liss
Pages: 6 Volume / Issue: 40 (8) Sequence Number: - Start / End Page: 1057 - 1062 Identifier: ISSN: 1059-7794
CoNE: https://pure.mpg.de/cone/journals/resource/954925597586