AI Chat Paper
Note: Please note that the following content is generated by AMiner AI. SciOpen does not take any responsibility related to this content.
{{lang === 'zh_CN' ? '文章概述' : 'Summary'}}
{{lang === 'en_US' ? '中' : 'Eng'}}
Chat more with AI
PDF (1.3 MB)
Collect
Submit Manuscript AI Chat Paper
Show Outline
Outline
Show full outline
Hide outline
Outline
Show full outline
Hide outline
Letter | Open Access

Unique presentation of a novel gain-of-function mutation in MTOR

Samira SlimaniaAlex G.I. GagnonaSimon V. SchreiberaNicolas A.D. BergeronaLudwig Haydocka,bSébastien LabontéaMarc-Étienne HuotaAlexandre P. GarneauaGuillaume CanaudaPaul Isenringa( )
Centre de recherche du CHU de Québec at the L’Hôtel-Dieu de Québec, Services de néphrologie, pathologie et cancérologie, Département de médecine, Université Laval, Québec G1R 2J6, Canada
Service de Néphrologie–Transplantation Rénale Adultes, Hôpital Necker-Enfants Malades, AP-HP, Inserm U1151, Université Paris Cité, rue de Sèvres, Paris 75015, France

Peer review under the responsibility of the Genes & Diseases Editorial Office, in alliance with the Association of Chinese Americans in Cancer Research (ACACR, Baltimore, MD, USA).

Show Author Information

References

1

Gordo G, Tenorio J, Arias P, et al. mTOR mutations in Smith-Kingsmore syndrome: four additional patients and a review. Clin Genet. 2018;93(4):762–775.

2

Liu AC, Shen Y, Serbinski CR, et al. Clinical and functional studies of MTOR variants in Smith-Kingsmore syndrome reveal deficits of circadian rhythm and sleep-wake behavior. HGG Adv. 2024;5(4):100333.

3

Carli D, Ferrero GB, Fusillo A, et al. A new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth. Clin Genet. 2021;99(5):719–723.

4

Nakashima M, Saitsu H, Takei N, et al. Somatic mutations in the MTOR gene cause focal cortical dysplasia type IIb. Ann Neurol. 2015;78(3):375–386.

5

Besterman AD, Althoff T, Elfferich P, et al. Functional and structural analyses of novel Smith-Kingsmore Syndrome-associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity. PLoS Genet. 2021;17(7):e1009651.

Genes & Diseases
Article number: 101405
Cite this article:
Slimani S, Gagnon AG, Schreiber SV, et al. Unique presentation of a novel gain-of-function mutation in MTOR. Genes & Diseases, 2025, 12(2): 101405. https://doi.org/10.1016/j.gendis.2024.101405

88

Views

7

Downloads

0

Crossref

0

Web of Science

0

Scopus

0

CSCD

Altmetrics

Received: 11 June 2024
Published: 02 September 2024
© 2024 The Authors.

This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).

Return