Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannomaCitation formats

  • External authors:
  • Ludwine M Messiaen
  • William D Foulkes
  • Rachel E A Irving
  • Alexandra J Murray
  • Cristina Perez-Becerril
  • Barbara Rivera
  • Donna M McDonald-McGinn
  • David A Stevenson

Standard

Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma. / Evans, D Gareth; Messiaen, Ludwine M ; Foulkes, William D ; Irving, Rachel E A; Murray , Alexandra J; Perez-Becerril, Cristina; Rivera, Barbara; McDonald-McGinn, Donna M ; Stevenson, David A; Smith, Miriam J.

In: Genetics in Medicine, 30.03.2021.

Research output: Contribution to journalArticlepeer-review

Harvard

Evans, DG, Messiaen, LM, Foulkes, WD, Irving, REA, Murray , AJ, Perez-Becerril, C, Rivera, B, McDonald-McGinn, DM, Stevenson, DA & Smith, MJ 2021, 'Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma', Genetics in Medicine.

APA

Evans, D. G., Messiaen, L. M., Foulkes, W. D., Irving, R. E. A., Murray , A. J., Perez-Becerril, C., Rivera, B., McDonald-McGinn, D. M., Stevenson, D. A., & Smith, M. J. (Accepted/In press). Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma. Genetics in Medicine.

Vancouver

Evans DG, Messiaen LM, Foulkes WD, Irving REA, Murray AJ, Perez-Becerril C et al. Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma. Genetics in Medicine. 2021 Mar 30.

Author

Evans, D Gareth ; Messiaen, Ludwine M ; Foulkes, William D ; Irving, Rachel E A ; Murray , Alexandra J ; Perez-Becerril, Cristina ; Rivera, Barbara ; McDonald-McGinn, Donna M ; Stevenson, David A ; Smith, Miriam J. / Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma. In: Genetics in Medicine. 2021.

Bibtex

@article{c54c6c30cda24427a964205fff548405,
title = "Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma",
abstract = "Purpose The LZTR1 gene has been associated with schwannomatosis tumour predisposition and is located in a region that is deleted in the great majority (89%) of patients with 22q11.2 deletion syndrome (22q11.2DS). Since it is known that approximately 1 in 500 people in the general population will develop a sporadic schwannoma and there are no reports of the occurrence of schwannoma in 22q11.2DS, we investigated whether whole gene deletion of LZTR1 occurs in schwannomatosis and assessed the risk of schwannoma in 22q11.2DS.Methods We assessed the genetic testing results for LZTR1-associated schwannomatosis and the clinical phenotypes of patients with 22q11.2DS.Results There were no reports of schwannoma in over 1500 patients with 22q11.2DS. In addition, no patients meeting clinical diagnostic criteria for schwannomatosis had a whole gene deletion in LZTR1. Only one patient in 110 with an apparently sporadic vestibular schwannoma had a constitutional whole gene deletion of LZTR1.Conclusion People with a large 22q11.2 deletion may have a reduced risk of developing a schwannoma compared to the general population.",
author = "Evans, {D Gareth} and Messiaen, {Ludwine M} and Foulkes, {William D} and Irving, {Rachel E A} and Murray, {Alexandra J} and Cristina Perez-Becerril and Barbara Rivera and McDonald-McGinn, {Donna M} and Stevenson, {David A} and Smith, {Miriam J}",
year = "2021",
month = mar,
day = "30",
language = "English",
journal = "Genetics in Medicine",
issn = "1098-3600",
publisher = "Lippincott Williams & Wilkins",

}

RIS

TY - JOUR

T1 - Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma

AU - Evans, D Gareth

AU - Messiaen, Ludwine M

AU - Foulkes, William D

AU - Irving, Rachel E A

AU - Murray , Alexandra J

AU - Perez-Becerril, Cristina

AU - Rivera, Barbara

AU - McDonald-McGinn, Donna M

AU - Stevenson, David A

AU - Smith, Miriam J

PY - 2021/3/30

Y1 - 2021/3/30

N2 - Purpose The LZTR1 gene has been associated with schwannomatosis tumour predisposition and is located in a region that is deleted in the great majority (89%) of patients with 22q11.2 deletion syndrome (22q11.2DS). Since it is known that approximately 1 in 500 people in the general population will develop a sporadic schwannoma and there are no reports of the occurrence of schwannoma in 22q11.2DS, we investigated whether whole gene deletion of LZTR1 occurs in schwannomatosis and assessed the risk of schwannoma in 22q11.2DS.Methods We assessed the genetic testing results for LZTR1-associated schwannomatosis and the clinical phenotypes of patients with 22q11.2DS.Results There were no reports of schwannoma in over 1500 patients with 22q11.2DS. In addition, no patients meeting clinical diagnostic criteria for schwannomatosis had a whole gene deletion in LZTR1. Only one patient in 110 with an apparently sporadic vestibular schwannoma had a constitutional whole gene deletion of LZTR1.Conclusion People with a large 22q11.2 deletion may have a reduced risk of developing a schwannoma compared to the general population.

AB - Purpose The LZTR1 gene has been associated with schwannomatosis tumour predisposition and is located in a region that is deleted in the great majority (89%) of patients with 22q11.2 deletion syndrome (22q11.2DS). Since it is known that approximately 1 in 500 people in the general population will develop a sporadic schwannoma and there are no reports of the occurrence of schwannoma in 22q11.2DS, we investigated whether whole gene deletion of LZTR1 occurs in schwannomatosis and assessed the risk of schwannoma in 22q11.2DS.Methods We assessed the genetic testing results for LZTR1-associated schwannomatosis and the clinical phenotypes of patients with 22q11.2DS.Results There were no reports of schwannoma in over 1500 patients with 22q11.2DS. In addition, no patients meeting clinical diagnostic criteria for schwannomatosis had a whole gene deletion in LZTR1. Only one patient in 110 with an apparently sporadic vestibular schwannoma had a constitutional whole gene deletion of LZTR1.Conclusion People with a large 22q11.2 deletion may have a reduced risk of developing a schwannoma compared to the general population.

M3 - Article

JO - Genetics in Medicine

JF - Genetics in Medicine

SN - 1098-3600

ER -