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June 2021; 7 (3) Clinical/Scientific NotesOpen Access

Familial Lipomas Without Classic Neurofibromatosis-1 Caused by a Missense Germline NF1 Mutation

Erika Ramirez, Stephanie M. Morris, Tychele N. Turner, David H. Gutmann
First published March 26, 2021, DOI: https://doi.org/10.1212/NXG.0000000000000582
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Article Information

vol. 7 no. 3 e582
DOI: 
https://doi.org/10.1212/NXG.0000000000000582
Published By: 
Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology
Online ISSN: 
2376-7839
History: 
  • Received January 21, 2021
  • Accepted in final form February 23, 2021
  • First Published March 26, 2021.
Copyright & Usage: 
Copyright © 2021 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology. This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND), which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.

Author Disclosures

    1. Erika Ramirez, BSN,
    2. Stephanie M. Morris, MD,
    3. Tychele N. Turner, PhD and
    4. David H. Gutmann, MD, PhD (erikaramirez{at}wustl.edu)
  1. Erika Ramirez, BSN,
    2. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  2. Stephanie M. Morris, MD,
    3. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. Springworks Therapeutics - consultant

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. 1) NIH, 5K12NS00169017, trainee, 2015-2018

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  3. Tychele N. Turner, PhD and
    4. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. Genome Research, Editorial Board, less than 1 year

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  4. David H. Gutmann, MD, PhD (erikaramirez{at}wustl.edu)
    5. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. Glia Neuro-Oncology

    Patents:

    1. NF1 Gene, 1999. Identification of the NF1 gene and protein. mTOR, 2012. Identification of NF1 protein as mTOR regulator.

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. PI, NCI, R01, Defining risk factors for NF1-optic glioma, 2016-2021 PI, NIH, Defining the mechanistic basis for neurofibromatosis-1 nervous system disease heterogeneity. 2016-2024.

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. PD, The Giorgio Foundation, NF1-Dermal Neurofibroma Consortium, 2016-2021 PI, Neurofibromatosis Therapeutic Acceleration Program, Leveraging human iPSCs to determine the impact of patient-derived NF1 gene mutations on peripheral sensory neuron-driven Schwann cell growth, 2018-2021 PI, Gilbert Family Foundation, Vision Restoration Initiative, 2019-2022 PI, PLGA, Human iPSC PLGA Models for Therapeutic Drug Discovery and Evaluation, 2020-2022 PI, Ian's Friends Foundation, Overcoming human tumor xenograft rejection for preclinical modeling of pediatric low-grade astrocytomas (PLGAs), 2021

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License fee payments, Technology or Inventions:

    1. TSC knockout (GFAP-Cre) mouse (Tuberous Sclerosis Alliance)

    Royalty Payments, Technology or Inventions:

    1. NF1 gene patent, University of Michigan, 2000 to 2015

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  1. From the Department of Neurology (E.R., S.M.M., D.H.G.) and Department of Genetics (T.N.T.), Washington University School of Medicine, St. Louis, MO.
  1. Correspondence
    Dr. Gutmann gutmannd{at}wustl.edu
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