Skip to main content
Advertisement

Main menu

  • Home
  • Content
    • Current Issue
    • Accepted Manuscripts
    • Article Preview
    • Past Issue Archive
    • AJNR Case Collection
    • Case of the Week Archive
    • Classic Case Archive
    • Case of the Month Archive
  • Special Collections
    • Spinal CSF Leak Articles (Jan 2020-June 2024)
    • 2024 AJNR Journal Awards
    • Most Impactful AJNR Articles
  • Multimedia
    • AJNR Podcast
    • AJNR Scantastics
    • Video Articles
  • For Authors
    • Submit a Manuscript
    • Author Policies
    • Fast publishing of Accepted Manuscripts
    • Graphical Abstract Preparation
    • Manuscript Submission Guidelines
    • Imaging Protocol Submission
    • Submit a Case for the Case Collection
  • About Us
    • About AJNR
    • Editorial Board
  • More
    • Become a Reviewer/Academy of Reviewers
    • Subscribers
    • Permissions
    • Alerts
    • Feedback
    • Advertisers
    • ASNR Home
  • Other Publications
    • ajnr

User menu

  • Alerts
  • Log in

Search

  • Advanced search
American Journal of Neuroradiology
American Journal of Neuroradiology

American Journal of Neuroradiology

ASHNR American Society of Functional Neuroradiology ASHNR American Society of Pediatric Neuroradiology ASSR
  • Alerts
  • Log in

Advanced Search

  • Home
  • Content
    • Current Issue
    • Accepted Manuscripts
    • Article Preview
    • Past Issue Archive
    • AJNR Case Collection
    • Case of the Week Archive
    • Classic Case Archive
    • Case of the Month Archive
  • Special Collections
    • Spinal CSF Leak Articles (Jan 2020-June 2024)
    • 2024 AJNR Journal Awards
    • Most Impactful AJNR Articles
  • Multimedia
    • AJNR Podcast
    • AJNR Scantastics
    • Video Articles
  • For Authors
    • Submit a Manuscript
    • Author Policies
    • Fast publishing of Accepted Manuscripts
    • Graphical Abstract Preparation
    • Manuscript Submission Guidelines
    • Imaging Protocol Submission
    • Submit a Case for the Case Collection
  • About Us
    • About AJNR
    • Editorial Board
  • More
    • Become a Reviewer/Academy of Reviewers
    • Subscribers
    • Permissions
    • Alerts
    • Feedback
    • Advertisers
    • ASNR Home
  • Follow AJNR on Twitter
  • Visit AJNR on Facebook
  • Follow AJNR on Instagram
  • Join AJNR on LinkedIn
  • RSS Feeds

Welcome to the new AJNR, Updated Hall of Fame, and more. Read the full announcements.


AJNR is seeking candidates for the position of Associate Section Editor, AJNR Case Collection. Read the full announcement.

 

Research ArticlePediatrics

Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome

B.J. Halliday, G. Baynam, L. Ewans, L. Greenhalgh, R.J. Leventer, D.T. Pilz, R. Sachdev, I.E. Scheffer, D.M. Markie, G. McGillivray, S.P. Robertson and S. Mandelstam
American Journal of Neuroradiology November 2022, 43 (11) 1660-1666; DOI: https://doi.org/10.3174/ajnr.A7663
B.J. Halliday
aFrom the Departments of Women’s and Children’s Health (B.J.H., S.P.R.)
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for B.J. Halliday
G. Baynam
cWestern Australian Register of Developmental Anomalies and Genetic Services of Western Australia (G.B.), Undiagnosed Diseases Program, King Edward Memorial Hospital, Perth, Australia
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
L. Ewans
dCentre for Population Genomics (L.E.), Garvan Institute of Medical Research, Sydney, Australia
eCentre for Clinical Genetics (L.E., R.S.), Sydney Children’s Hospital, Sydney, Australia
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
L. Greenhalgh
fLiverpool Centre for Genomic Medicine (L.G.), Liverpool Women’s Hospital, Liverpool, England
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
R.J. Leventer
gMurdoch Children’s Research Institute (R.J.L., I.E.S., G.M., S.M.), Melbourne, Australia
hDepartment of Paediatrics (R.J.L., I.E.S., S.M.), Epilepsy Research Centre
kDepartments of Neurology (R.J.L., I.E.S.)
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for R.J. Leventer
D.T. Pilz
mWest of Scotland Genetics Service (D.T.P.), Queen Elizabeth University Hospital, Glasgow, UK
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
R. Sachdev
eCentre for Clinical Genetics (L.E., R.S.), Sydney Children’s Hospital, Sydney, Australia
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
I.E. Scheffer
gMurdoch Children’s Research Institute (R.J.L., I.E.S., G.M., S.M.), Melbourne, Australia
hDepartment of Paediatrics (R.J.L., I.E.S., S.M.), Epilepsy Research Centre
iAustin Health (I.E.S.)
jFlorey Institute (I.E.S.), University of Melbourne, Melbourne, Australia
kDepartments of Neurology (R.J.L., I.E.S.)
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for I.E. Scheffer
D.M. Markie
bPathology (D.M.M.), OtagoMedical School, University of Otago, Dunedin, New Zealand
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for D.M. Markie
G. McGillivray
gMurdoch Children’s Research Institute (R.J.L., I.E.S., G.M., S.M.), Melbourne, Australia
nVictorian Clinical Genetics Services (G.M.), Murdoch Children’s Research Institute, Melbourne, Australia
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for G. McGillivray
S.P. Robertson
aFrom the Departments of Women’s and Children’s Health (B.J.H., S.P.R.)
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for S.P. Robertson
S. Mandelstam
gMurdoch Children’s Research Institute (R.J.L., I.E.S., G.M., S.M.), Melbourne, Australia
hDepartment of Paediatrics (R.J.L., I.E.S., S.M.), Epilepsy Research Centre
lRadiology (S.M.), Royal Children’s Hospital, Melbourne, Australia
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for S. Mandelstam
  • Article
  • Figures & Data
  • Info & Metrics
  • Responses
  • References
  • PDF
Loading

References

  1. 1.↵
    1. Richards S,
    2. Aziz N,
    3. Bale S, et al
    ; ACMG Laboratory Quality Assurance Committee. Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17:405–24 doi:10.1038/gim.2015.30 pmid:25741868
    CrossRefPubMed
  2. 2.↵
    1. Zhu X,
    2. Petrovski S,
    3. Xie P, et al
    . Whole-exome sequencing in undiagnosed genetic diseases: Interpreting 119 trios. Genet Med 2015;17:774–81 doi:10.1038/gim.2014.191 pmid:25590979
    CrossRefPubMed
  3. 3.↵
    1. Kim JH,
    2. Shinde DN,
    3. Reijnders MR, et al
    ; Deciphering Developmental Disorders Study. De novo mutations in SON disrupt RNA splicing of genes essential for brain development and metabolism, causing an intellectual-disability syndrome. Am J Hum Genet 2016;99:711–19 doi:10.1016/j.ajhg.2016.06.029 pmid:27545680
    CrossRefPubMed
  4. 4.↵
    1. Tokita MJ,
    2. Braxton AA,
    3. Shao Y, et al
    . De novo truncating variants in SON cause intellectual disability, congenital malformations, and failure to thrive. Am J Hum Genet 2016;99:720–27 doi:10.1016/j.ajhg.2016.06.035 pmid:27545676
    CrossRefPubMed
  5. 5.↵
    1. Takenouchi T,
    2. Miura K,
    3. Uehara T, et al
    . Establishing SON in 21q22.11 as a cause a new syndromic form of intellectual disability: possible contribution to Braddock-Carey syndrome phenotype. Am J Med Genet A 2016;170:2587–90 doi:10.1002/ajmg.a.37761 pmid:27256762
    CrossRefPubMed
  6. 6.↵
    1. Sharma A,
    2. Markey M,
    3. Torres-Muñoz K, et al
    . SON maintains accurate splicing for a subset of human pre-mRNAs. J Cell Sci 2011;124:4286–98 doi:10.1242/jcs.092239 pmid:22193954
    Abstract/FREE Full Text
  7. 7.
    1. Ahn EE,
    2. DeKelver RC,
    3. Lo MC, et al
    . SON controls cell-cycle progression by coordinated regulation of RNA splicing. Mol Cell 2011;42:185–98 doi:10.1016/j.molcel.2011.03.014 pmid:21504830
    CrossRefPubMedWeb of Science
  8. 8.
    1. Livyatan I,
    2. Meshorer E
    . SON sheds light on RNA splicing and pluripotency. Nat Cell Biol 2013;15:1139–40 doi:10.1038/ncb2851 pmid:24084863
    CrossRefPubMed
  9. 9.
    1. Ueda M,
    2. Matsuki T,
    3. Fukada M, et al
    . Knockdown of SON, a mouse homologue of the ZTTK syndrome gene, causes neuronal migration defects and dendritic spine abnormalities. Mol Brain 2020;13:1–9 doi:10.1186/s13041-020-00622-4 pmid:32448361
    CrossRefPubMed
  10. 10.↵
    1. Kim JH,
    2. Baddoo MC,
    3. Park EY, et al
    . SON and its alternatively spliced isoforms control MLL complex-mediated H3K4me3 and transcription of leukemia-associated genes. Mol Cell 2016;61:859–73 doi:10.1016/j.molcel.2016.02.024 pmid:26990989
    CrossRefPubMed
  11. 11.↵
    1. Kushary ST,
    2. Revah-Politi A,
    3. Barua S, et al
    . ZTTK syndrome: clinical and molecular findings of 15 cases and a review of the literature. Am J Med Genet A 2021;185:3740–53 doi:10.1002/ajmg.a.62445] pmid:34331327
    CrossRefPubMed
  12. 12.↵
    1. Dingemans AJ,
    2. Truijen KM,
    3. Kim JH, et al
    . Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON. Eur J Hum Genet 2022;30:271–81 doi:10.1038/s41431-021-00960-4 pmid:34521999
    CrossRefPubMed
  13. 13.
    1. Kim JH,
    2. Park EY,
    3. Chitayat D, et al
    . SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes. Kidney Int 2019;95:1494–1504 doi:10.1016/j.kint.2019.01.025 pmid:31005274
    CrossRefPubMed
  14. 14.↵
    1. Slezak R,
    2. Smigiel R,
    3. Rydzanicz M, et al
    . Phenotypic expansion in Zhu-Tokita-Takenouchi-Kim syndrome caused by de novo variants in the SON gene. Mol Genet Genomic Med 2020;8:1–7 doi:10.1002/mgg3.1432 pmid:32705777
    CrossRefPubMed
  15. 15.↵
    1. Vriend I,
    2. Oegema R
    . Genetic causes underlying grey matter heterotopia. Eur J Paediatr Neurol 2021;35:82–92 doi:10.1016/j.ejpn.2021.09.015 pmid:34666232
    CrossRefPubMed
  16. 16.↵
    1. Parrini E,
    2. Ramazzotti A,
    3. Dobyns WB, et al
    . Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin a mutations. Brain 2006;129:1892–1906 doi:10.1093/brain/awl125 pmid:16684786
    CrossRefPubMedWeb of Science
  17. 17.↵
    1. Heinzen EL,
    2. O’Neill AC,
    3. Zhu X, et al
    ; for the Epi4K Consortium. De novo and inherited private variants in MAP1B in periventricular nodular heterotopia. PLoS Genet 2018;14:e1007281–23 doi:10.1371/journal.pgen.1007281 pmid:29738522
    CrossRefPubMed
  18. 18.↵
    1. Karczewski KJ,
    2. Francioli LC,
    3. MacArthur DG
    . The mutational constraint spectrum quantified from variation in 141,456 humans. Nature 2020;581:434–43 doi:10.1530/ey.17.14.3
    CrossRef
  19. 19.↵
    1. Thormann A,
    2. Halachev M,
    3. McLaren W, et al
    . Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun 2019;10:2373 doi:10.1038/s41467-019-10016-3 pmid:31147538
    CrossRefPubMed
  20. 20.↵
    1. Garel C,
    2. Cont I,
    3. Alberti C, et al
    . Biometry of the corpus callosum in children: MR imaging reference data. AJNR Am J Neuroradiol 2011;32:1436–43 doi:10.3174/ajnr.A2542 pmid:21799035
    Abstract/FREE Full Text
  21. 21.↵
    1. Jandeaux C,
    2. Kuchcinski G,
    3. Ternynck C, et al
    . Biometry of the cerebellar vermis and brain stem in children: MR imaging reference data from measurements in 718 children. AJNR Am J Neuroradiol 2019;40:1835–41 doi:10.3174/ajnr.A6257 pmid:31624120
    Abstract/FREE Full Text
  22. 22.↵
    1. Broix L,
    2. Jagline H,
    3. Ivanova E, et al
    ; Deciphering Developmental Disorders Study. Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia. Nat Genet 2016;48:1349–58 doi:10.1038/ng.3676 pmid:27694961
    CrossRefPubMed
  23. 23.↵
    1. Wieck G,
    2. Leventer RJ,
    3. Squier WM, et al
    . Periventricular nodular heterotopia with overlying polymicrogyria. Brain 2005;128:2811–21 doi:10.1093/brain/awh658 pmid:16311271
    CrossRefPubMedWeb of Science
  24. 24.↵
    1. Quintana Castanedo L,
    2. Sánchez Orta A,
    3. Maseda Pedrero R, et al
    . Skin and nails abnormalities in a patient with ZTTK syndrome and a de novo mutation in SON. Pediatr Dermatol 2020;37:517–19 doi:10.1111/pde.14113 pmid:32045494
    CrossRefPubMed
  25. 25.↵
    1. Conti V,
    2. Carabalona A,
    3. Pallesi-Pocachard E, et al
    . Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene. Brain 2013;136:3378–94 doi:10.1093/brain/awt249 pmid:24056535
    CrossRefPubMed
  26. 26.↵
    1. Myers KA,
    2. Mandelstam SA,
    3. Ramantani G, et al
    . The epileptology of Koolen-de Vries syndrome: electro-clinico-radiologic findings in 31 patients. Epilepsia 2017;58:1085–94 doi:10.1111/epi.13746 pmid:28440867
    CrossRefPubMed
PreviousNext
Back to top

In this issue

American Journal of Neuroradiology: 43 (11)
American Journal of Neuroradiology
Vol. 43, Issue 11
1 Nov 2022
  • Table of Contents
  • Index by author
  • Complete Issue (PDF)
Advertisement
Print
Download PDF
Email Article

Thank you for your interest in spreading the word on American Journal of Neuroradiology.

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.
Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome
(Your Name) has sent you a message from American Journal of Neuroradiology
(Your Name) thought you would like to see the American Journal of Neuroradiology web site.
CAPTCHA
This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.
Cite this article
B.J. Halliday, G. Baynam, L. Ewans, L. Greenhalgh, R.J. Leventer, D.T. Pilz, R. Sachdev, I.E. Scheffer, D.M. Markie, G. McGillivray, S.P. Robertson, S. Mandelstam
Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome
American Journal of Neuroradiology Nov 2022, 43 (11) 1660-1666; DOI: 10.3174/ajnr.A7663

Citation Manager Formats

  • BibTeX
  • Bookends
  • EasyBib
  • EndNote (tagged)
  • EndNote 8 (xml)
  • Medlars
  • Mendeley
  • Papers
  • RefWorks Tagged
  • Ref Manager
  • RIS
  • Zotero
0 Responses
Respond to this article
Share
Bookmark this article
Brain Malf in Zhu-Tokita-Takenouchi-Kim Syndrome
B.J. Halliday, G. Baynam, L. Ewans, L. Greenhalgh, R.J. Leventer, D.T. Pilz, R. Sachdev, I.E. Scheffer, D.M. Markie, G. McGillivray, S.P. Robertson, S. Mandelstam
American Journal of Neuroradiology Nov 2022, 43 (11) 1660-1666; DOI: 10.3174/ajnr.A7663
del.icio.us logo Twitter logo Facebook logo Mendeley logo
  • Tweet Widget
  • Facebook Like
  • Google Plus One
Purchase

Jump to section

  • Article
    • Abstract
    • ABBREVIATIONS:
    • MATERIALS AND METHODS
    • RESULTS
    • DISCUSSION
    • CONCLUSIONS
    • Acknowledgments
    • Footnotes
    • References
  • Figures & Data
  • Info & Metrics
  • Responses
  • References
  • PDF

Related Articles

  • No related articles found.
  • PubMed
  • Google Scholar

Cited By...

  • No citing articles found.
  • Crossref (1)
  • Google Scholar

This article has been cited by the following articles in journals that are participating in Crossref Cited-by Linking.

  • Delayed motor, mental and speech development and congenital brain malformations: the first description of Zhu–Tokita–Takenouchi–Kim syndrome in Russia
    O. B. Kondakova, A. P. Gudkova, S. V. Demyanov, Yu. I. Davydova, A. A. Lyalina, D. I. Grebenkin, E. A. Bakovich, I. V. Kanivets, D. S. Demyanov, I. S. Zhanin, A. A. Pushkov, K. V. Savostyanov
    Neuromuscular Diseases 2024 14 2

More in this TOC Section

  • Comparison of Image Quality and Radiation Dose in Pediatric Temporal Bone CT Using Photon-Counting Detector CT and Energy-Integrating Detector CT
  • SyMRI & MR Fingerprinting in Brainstem Myelination
  • Venous Sinus Stenosis in Mucopolysaccharidosis I
Show more Pediatrics

Similar Articles

Advertisement

Indexed Content

  • Current Issue
  • Accepted Manuscripts
  • Article Preview
  • Past Issues
  • Editorials
  • Editors Choice
  • Fellow Journal Club
  • Letters to the Editor

Cases

  • Case Collection
  • Archive - Case of the Week
  • Archive - Case of the Month
  • Archive - Classic Case

Special Collections

  • Special Collections

Resources

  • News and Updates
  • Turn around Times
  • Submit a Manuscript
  • Author Policies
  • Manuscript Submission Guidelines
  • Evidence-Based Medicine Level Guide
  • Publishing Checklists
  • Graphical Abstract Preparation
  • Imaging Protocol Submission
  • Submit a Case
  • Become a Reviewer/Academy of Reviewers
  • Get Peer Review Credit from Publons

Multimedia

  • AJNR Podcast
  • AJNR SCANtastic
  • Video Articles

About Us

  • About AJNR
  • Editorial Board
  • Not an AJNR Subscriber? Join Now
  • Alerts
  • Feedback
  • Advertise with us
  • Librarian Resources
  • Permissions
  • Terms and Conditions

American Society of Neuroradiology

  • Not an ASNR Member? Join Now

© 2025 by the American Society of Neuroradiology All rights, including for text and data mining, AI training, and similar technologies, are reserved.
Print ISSN: 0195-6108 Online ISSN: 1936-959X

Powered by HighWire