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

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Standard

Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome. / Nazaryan-Petersen, Lusine; Oliveira, Inês R; Mehrjouy, Mana M; Mendez, Juan M M; Bak, Mads; Bugge, Merete; Kalscheuer, Vera M; Bache, Iben; Hancks, Dustin C; Tommerup, Niels.

I: Human Mutation, Bind 40, Nr. 8, 2019, s. 1057-1062.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Nazaryan-Petersen, L, Oliveira, IR, Mehrjouy, MM, Mendez, JMM, Bak, M, Bugge, M, Kalscheuer, VM, Bache, I, Hancks, DC & Tommerup, N 2019, 'Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome', Human Mutation, bind 40, nr. 8, s. 1057-1062. https://doi.org/10.1002/humu.23775

APA

Nazaryan-Petersen, L., Oliveira, I. R., Mehrjouy, M. M., Mendez, J. M. M., Bak, M., Bugge, M., Kalscheuer, V. M., Bache, I., Hancks, D. C., & Tommerup, N. (2019). Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome. Human Mutation, 40(8), 1057-1062. https://doi.org/10.1002/humu.23775

Vancouver

Nazaryan-Petersen L, Oliveira IR, Mehrjouy MM, Mendez JMM, Bak M, Bugge M o.a. Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome. Human Mutation. 2019;40(8):1057-1062. https://doi.org/10.1002/humu.23775

Author

Nazaryan-Petersen, Lusine ; Oliveira, Inês R ; Mehrjouy, Mana M ; Mendez, Juan M M ; Bak, Mads ; Bugge, Merete ; Kalscheuer, Vera M ; Bache, Iben ; Hancks, Dustin C ; Tommerup, Niels. / Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome. I: Human Mutation. 2019 ; Bind 40, Nr. 8. s. 1057-1062.

Bibtex

@article{29c18150e23040619cd8167edf01a058,

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

abstract = "Moebius syndrome (MBS) is a congenital disorder caused by paralysis of the facial and abducens nerves. While 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. This article is protected by copyright. All rights reserved.",

author = "Lusine Nazaryan-Petersen and Oliveira, {In{\^e}s R} and Mehrjouy, {Mana M} and Mendez, {Juan M M} and Mads Bak and Merete Bugge and Kalscheuer, {Vera M} and Iben Bache and Hancks, {Dustin C} and Niels Tommerup",

year = "2019",

doi = "10.1002/humu.23775",

language = "English",

volume = "40",

pages = "1057--1062",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "JohnWiley & Sons, Inc.",

number = "8",

}

RIS

TY - JOUR

T1 - Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome

AU - Nazaryan-Petersen, Lusine

AU - Oliveira, Inês R

AU - Mehrjouy, Mana M

AU - Mendez, Juan M M

AU - Bak, Mads

AU - Bugge, Merete

AU - Kalscheuer, Vera M

AU - Bache, Iben

AU - Hancks, Dustin C

AU - Tommerup, Niels

PY - 2019

Y1 - 2019

N2 - Moebius syndrome (MBS) is a congenital disorder caused by paralysis of the facial and abducens nerves. While 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. This article is protected by copyright. All rights reserved.

AB - Moebius syndrome (MBS) is a congenital disorder caused by paralysis of the facial and abducens nerves. While 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. This article is protected by copyright. All rights reserved.

U2 - 10.1002/humu.23775

DO - 10.1002/humu.23775

M3 - Journal article

C2 - 31033088

VL - 40

SP - 1057

EP - 1062

JO - Human Mutation

JF - Human Mutation

SN - 1059-7794

IS - 8

ER -

ID: 217379988