Share

June 2017; 3 (3) Clinical/Scientific NotesOpen Access

Compound heterozygous mutations in MASP1 in a deaf child with absent cochlear nerves

Elina Kari, Isabelle Schrauwen, Lorida Llaci, Laurel M. Fisher, John L. Go, Marcus Naymik, James A. Knowles, Matthew J. Huentelman, Rick A. Friedman
First published May 11, 2017, DOI: https://doi.org/10.1212/NXG.0000000000000153
Full PDF
Citation
Permissions

Make Comment

See Comments

Downloads
490

Share

Article Information

vol. 3 no. 3 e153
DOI: 
https://doi.org/10.1212/NXG.0000000000000153
Published By: 
Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology
Online ISSN: 
2376-7839
History: 
  • Received December 17, 2016
  • Accepted in final form March 27, 2017
  • First Published May 11, 2017.
Copyright & Usage: 
Copyright © 2017 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. Elina Kari, MD*,
    2. Isabelle Schrauwen, PhD*,
    3. Lorida Llaci, BS,
    4. Laurel M. Fisher, PhD,
    5. John L. Go, MD,
    6. Marcus Naymik, MS,
    7. James A. Knowles, MD, PhD,
    8. Matthew J. Huentelman, PhD and
    9. Rick A. Friedman, MD, PhD
  1. Elina Kari, MD*,
    2. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. I and my husband (also a neurotologist) -received travel funds to attend a cochlear implant conference organized by Cochlear Corporation in 11/2016 -travel funds and speaker honoraria from Asan Medical Center, Seoul South Korea 11/2016

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. Husband is a consultant for Otonomy, Inc. (not related to findings in this paper)

    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. Husband NIH/NIDCD grant (see Rick Friedman, also on this paper, for details)

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. Husband has stock in Otonomy, Inc (not related to findings in this paper)

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. Husband receives Royalties from sales of Otiprio from Otonomy (not related to findings in this paper)

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  2. Isabelle Schrauwen, PhD*,
    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. 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. Arizona Alzheimer?s Disease Core Center (ADCC) Pilot grant award, P30 AG019610, Schrauwen (PI), 07/01/2015 ? 6/30/2016

    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. Lorida Llaci, BS,
    4. 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

  4. Laurel M. Fisher, PhD,
    5. 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

  5. John L. Go, MD,
    6. 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

  6. Marcus Naymik, MS,
    7. 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

  7. James A. Knowles, MD, PhD,
    8. 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. R01 MH104964 (M. Pato & C. Pato) 05/15/15 - 01/31/20 0.60 calendar NIH/NIMH $125,086 (Year 1) African Ancestry Genomic Psychiatry Cohort U01 MH105573 (C. Pato) 09/19/14 - 6/30/18 0.60 calendar NIH/NIMH $48,114 (Year 1) 3/3 - Whole Genome Sequencing for Schizophrenia and Bipolar Disorder in the GPC R01 MH103346 (Knowles, Farnham) 06/15/14 ? 05/31/17 0.24 calendar NIH/NIMH $395,238 (Year 1) The USC PsychENCODE Project R01 MH103657 (Pato, Knowles) 03/01/14 - 1/31/19 0.60 calendar NIH/NIMH $498,474 (Year 1) Addition of OCD to the Genomic Psychiatry Cohort R01 MH081884 (Kalin) 04/16/13 ? 02/28/18 0.48 calendar NIH/NIMH $53,868 (Year 2) Brain Mechanisms Mediating Genetic Risk for Anxiety and Depression R01 MH100172 (Campbell) 04/01/13 ? 03/31/17 1.20 calendar NIH/NIMH $264,981 (Year 2) Biology of Non-Coding RNAs Associated with Psychiatric Disorders U01 MH098937 (Knowles, Chow) 09/21/12 ? 05/31/17 3.24 calendar NIH/NIMH $1,048,963 (Year 3) Evaluation of Cellular Heterogeneity Using Patchclamp and RNA-Seq of Single Cells R01 MH086874 (Evgrafov) 07/12/11 - 04/30/16 1.20 calendar NIH/NIMH $419,097 (Year 4) Transcriptome Sequencing of Neuronal Cell Lines from Patients with Schizophrenia

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. Della Martin Foundation Della Martin Chair in Psychiatry & Neuroscience

    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

  8. Matthew J. Huentelman, PhD and
    9. 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. NIH-NINDS R01 NS059873 Role: Principal Investigator Years: 2008-2012

    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

  9. Rick A. Friedman, MD, PhD
    10. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. I and my wife received: -travel funds to attend a cochlear implant conference organized by Cochlear Corporation in 11/2016 -travel funds and speaker honorarium from Asan Medical University in Seoul, South Korea in 11/2016

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. Consultant for Otonomy, Inc

    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. NIH R01 DC010856, PI, (funding period now over)

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. own stock in Otonomy Inc (not related to paper)

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. From sales of Otiprio, from Otonomy, not related to paper

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  1. From the Tina and Rick Caruso Department of Otolaryngology–Head and Neck Surgery (E.K., L.M.F., J.L.G., J.A.K., R.A.F.), Keck University of Southern California School of Medicine, Los Angeles; and TGen (I.S., L.L., M.N., M.J.H.), Translational Genomics Research Institute, Phoenix, AZ.
  1. Correspondence to Dr. Kari: Elina.kari{at}med.usc.edu
View Full Text

Article usage

Article usage: May 2017 to December 2022

AbstractFullPdfSource
May 201714220435Highwire
Jun 2017812913Highwire
Jul 20173389Highwire
Aug 20171043Highwire
Sep 2017721Highwire
Oct 2017462Highwire
Nov 20171262Highwire
Dec 20174102Highwire
Jan 2018193Highwire
Feb 20180179Highwire
Mar 20181501Highwire
Apr 20180281Highwire
May 20181412Highwire
Jun 20182434Highwire
Jul 20180161Highwire
Aug 20181140Highwire
Sep 20180275Highwire
Oct 20180344Highwire
Nov 20181413Highwire
Dec 20182575Highwire
Jan 20191431Highwire
Feb 20196584Highwire
Mar 20191216Highwire
Apr 20196153Highwire
May 201901115Highwire
Jun 20190145Highwire
Jul 20191145Highwire
Aug 20191514Highwire
Sep 20190104Highwire
Oct 20190164Highwire
Nov 20190128Highwire
Dec 2019064Highwire
Jan 2020284Highwire
Feb 20200117Highwire
Mar 20200104Highwire
Apr 20201156Highwire
May 202011412Highwire
Jun 20201138Highwire
Jul 20202116Highwire
Aug 20201135Highwire
Sep 20201117Highwire
Oct 2020182Highwire
Nov 20200139Highwire
Dec 20202144Highwire
Jan 20210102Highwire
Feb 20210712Highwire
Mar 20213126Highwire
Apr 20212179Highwire
May 202111020Highwire
Jun 2021165Highwire
Jul 20211108Highwire
Aug 20211117Highwire
Sep 202101012Highwire
Oct 202141326Highwire
Nov 202101219Highwire
Dec 20211165Highwire
Jan 20220324Highwire
Feb 202201711Highwire
Mar 20220129Highwire
Apr 20220124Highwire
May 202231810Highwire
Jun 20220916Highwire
Jul 2022036Highwire
Aug 2022086Highwire
Sep 202211511Highwire
Oct 202202317Highwire
Nov 202205019Highwire
Dec 20220124Highwire

Cited By...

Letters: Rapid online correspondence

No comments have been published for this article.
Comment

REQUIREMENTS

If you are uploading a letter concerning an article:
You must have updated your disclosures within six months: http://submit.neurology.org

Your co-authors must send a completed Publishing Agreement Form to Neurology Staff (not necessary for the lead/corresponding author as the form below will suffice) before you upload your comment.

If you are responding to a comment that was written about an article you originally authored:
You (and co-authors) do not need to fill out forms or check disclosures as author forms are still valid
and apply to letter.

Submission specifications:

  • Submissions must be < 200 words with < 5 references. Reference 1 must be the article on which you are commenting.
  • Submissions should not have more than 5 authors. (Exception: original author replies can include all original authors of the article)
  • Submit only on articles published within 6 months of issue date.
  • Do not be redundant. Read any comments already posted on the article prior to submission.
  • Submitted comments are subject to editing and editor review prior to posting.

More guidelines and information on Disputes & Debates

Compose Comment

More information about text formats

Plain text

  • No HTML tags allowed.
  • Web page addresses and e-mail addresses turn into links automatically.
  • Lines and paragraphs break automatically.
Author Information
NOTE: The first author must also be the corresponding author of the comment.
First or given name, e.g. 'Peter'.
Your last, or family, name, e.g. 'MacMoody'.
Your email address, e.g. higgs-boson@gmail.com
Your role and/or occupation, e.g. 'Orthopedic Surgeon'.
Your organization or institution (if applicable), e.g. 'Royal Free Hospital'.
Publishing Agreement
NOTE: All authors, besides the first/corresponding author, must complete a separate Publishing Agreement Form and provide via email to the editorial office before comments can be posted.
CAPTCHA
This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.

Vertical Tabs

You May Also be Interested in

Back to top
Advertisement

Related Articles

  • No related articles found.

Topics Discussed

Alert Me