Skip to main content

Main menu

  • Home
  • Content
    • Latest
    • Ahead of print
    • Archive
  • Info for
    • Authors
    • Reviewers
    • Subscribers
    • Institutions
    • Advertisers
  • About Us
    • About Us
    • Editorial Office
    • Editorial Board
  • More
    • Alerts
    • Feedback
    • Folders
    • Help
  • Other Publications
    • Saudi Medical Journal

User menu

  • My alerts
  • Log in

Search

  • Advanced search
Neurosciences Journal
  • Other Publications
    • Saudi Medical Journal
  • My alerts
  • Log in
Neurosciences Journal

Advanced Search

  • Home
  • Content
    • Latest
    • Ahead of print
    • Archive
  • Info for
    • Authors
    • Reviewers
    • Subscribers
    • Institutions
    • Advertisers
  • About Us
    • About Us
    • Editorial Office
    • Editorial Board
  • More
    • Alerts
    • Feedback
    • Folders
    • Help
  • Follow psmmc on Twitter
  • Visit psmmc on Facebook
  • RSS
Case ReportCase Report
Open Access

A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing

Noufa A. Alonazi, Khalid J. Hundallah, Amal M. Al Hashem and Sarar Mohamed
Neurosciences Journal April 2018, 23 (2) 162-164; DOI: https://doi.org/10.17712/nsj.2018.2.20170463
Noufa A. Alonazi
From the Department of Pediatrics (Hundalla, Al Hashem, Mohamed), Prince Sultan Military Medical City, Prince Abdullah bin Khalid Celiac Disease Research Chair (Mohamed), King Saud University, Riyadh, Kingdom of Saudi Arabia
MD, MSc
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • For correspondence: [email protected]
Khalid J. Hundallah
From the Department of Pediatrics (Hundalla, Al Hashem, Mohamed), Prince Sultan Military Medical City, Prince Abdullah bin Khalid Celiac Disease Research Chair (Mohamed), King Saud University, Riyadh, Kingdom of Saudi Arabia
MD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Amal M. Al Hashem
From the Department of Pediatrics (Hundalla, Al Hashem, Mohamed), Prince Sultan Military Medical City, Prince Abdullah bin Khalid Celiac Disease Research Chair (Mohamed), King Saud University, Riyadh, Kingdom of Saudi Arabia
MD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Sarar Mohamed
From the Department of Pediatrics (Hundalla, Al Hashem, Mohamed), Prince Sultan Military Medical City, Prince Abdullah bin Khalid Celiac Disease Research Chair (Mohamed), King Saud University, Riyadh, Kingdom of Saudi Arabia
MD, FRCPCH
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • Article
  • Figures & Data
  • eLetters
  • Info & Metrics
  • References
  • PDF
Loading

References

  1. ↵
    1. Syllaba L,
    2. Henner K
    (1926) Contribution a l'independance de l'athetose double idiopathique et congenitale. Rev Neurol 1, 541–62.
  2. ↵
    1. Boder E,
    2. Sedgwick RP
    (1957) A familial syndrome of progressive cerebellar ataxia, Oculo-cutaneous telangiectasia and frequent pulmonary infection: a preliminary report on seven children, an autopsy, and a case history. Univ Southern Calif Med Bull 9, 15–28.
  3. ↵
    1. Nissenkorn A,
    2. Levy-Shraga Y,
    3. Banet-Levi Y,
    4. Lahad A,
    5. Sarouk I,
    6. Modan-Moses D
    (2016) Endocrine abnormalities in ataxia telangiectasia: findings from a national cohort. Pediatr Res 79, 889–894.
  4. ↵
    1. Stankovic T,
    2. Kidd AM,
    3. Sutcliffe A,
    4. McGuire GM,
    5. Robinson P,
    6. Weber P,
    7. et al.
    (1998) ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer. Am J Hum Genet 62, 334–345.
  5. ↵
    1. Shaikh AG,
    2. Zee DS,
    3. Mandir AS,
    4. Lederman HM,
    5. Crawford TO
    (2013) Disorders of upper limb movements in ataxia-telangiectasia. PLoS One 8, e67042.
  6. ↵
    1. Rothblum-Oviatt C,
    2. Wright J,
    3. Lefton-Greif M,
    4. McGrath-Morrow S,
    5. Crawford TO,
    6. Lederman HM
    (2016) Ataxia telangiectasia: a review. Orphanet J Rare Dis 11, 159.
    1. Bhatt JM,
    2. Bush A,
    3. van Gerven M,
    4. Nissenkorn A,
    5. Renke M,
    6. Yarlett L,
    7. et al.
    (2015) ERS statement on the multidisciplinary respiratory management of ataxia telangiectasia. Eur Respir Rev 24, 565–581.
  7. ↵
    1. Suarez F,
    2. Mahlaoui N,
    3. Canioni D,
    4. Andriamanga C,
    5. Dubois C,
    6. Brousse N,
    7. et al.
    (2015) Incidence, presentation, and prognosis of malignancies in ataxia-telangiectasia: A report from the French National Registry of primary immune deficiencies. J Clin Oncol 33, 202–208.
  8. ↵
    1. Voss S,
    2. Pietzner J,
    3. Hoche F,
    4. Taylor AR,
    5. Last JI,
    6. Schubert R,
    7. et al.
    (2014) Growth retardation and growth hormone deficiency in patients with ataxia telangiectasia. J Growth Factors 32, 123–129.
  9. ↵
    1. Hoche F,
    2. Seidel K,
    3. Theis M,
    4. Vlaho S,
    5. Schubert R,
    6. Zielen S,
    7. et al.
    (2012) Neurodegeneration in ataxia telangiectasia: what is new?What is evident? Neuropediatrics 43, 119–129.
PreviousNext
Back to top

In this issue

Neurosciences Journal: 23 (2)
Neurosciences Journal
Vol. 23, Issue 2
1 Apr 2018
  • Table of Contents
  • Cover (PDF)
  • Index by author
Print
Download PDF
Email Article

Thank you for your interest in spreading the word on Neurosciences Journal.

NOTE: We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail. We do not capture any email address.

Enter multiple addresses on separate lines or separate them with commas.
A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing
(Your Name) has sent you a message from Neurosciences Journal
(Your Name) thought you would like to see the Neurosciences Journal web site.
Citation Tools
A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing
Noufa A. Alonazi, Khalid J. Hundallah, Amal M. Al Hashem, Sarar Mohamed
Neurosciences Journal Apr 2018, 23 (2) 162-164; DOI: 10.17712/nsj.2018.2.20170463

Citation Manager Formats

  • BibTeX
  • Bookends
  • EasyBib
  • EndNote (tagged)
  • EndNote 8 (xml)
  • Medlars
  • Mendeley
  • Papers
  • RefWorks Tagged
  • Ref Manager
  • RIS
  • Zotero
Share
A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing
Noufa A. Alonazi, Khalid J. Hundallah, Amal M. Al Hashem, Sarar Mohamed
Neurosciences Journal Apr 2018, 23 (2) 162-164; DOI: 10.17712/nsj.2018.2.20170463
Twitter logo Facebook logo Mendeley logo
  • Tweet Widget
  • Facebook Like
  • Google Plus One
Bookmark this article

Jump to section

  • Article
    • Abstract
    • Case Report
    • Discussion
    • Footnotes
    • References
  • Figures & Data
  • eLetters
  • References
  • Info & Metrics
  • PDF

Related Articles

  • No related articles found.
  • PubMed
  • Google Scholar

Cited By...

  • No citing articles found.
  • Google Scholar

More in this TOC Section

  • Unmasking the mimic: Leprosy neuropathy misdiagnosed as chronic inflammatory demyelinating polyneuropathy: A case report from Saudi Arabia
  • Seminal vesicle schwannoma with chronic hemorrhage
  • Marchiafava-Bignami disease post-bariatric surgery: A case report and review of similar cases
Show more Case Report

Similar Articles

Navigate

  • home

More Information

  • Help

Additional journals

  • All Topics

Other Services

  • About

© 2025 Neurosciences Journal Neurosciences is copyright under the Berne Convention and the International Copyright Convention. All rights reserved. Neurosciences is an Open Access journal and articles published are distributed under the terms of the Creative Commons Attribution-NonCommercial License (CC BY-NC). Readers may copy, distribute, and display the work for non-commercial purposes with the proper citation of the original work. Electronic ISSN 1658-3183. Print ISSN 1319-6138.

Powered by HighWire