The site of the Media Sphera Publishers contains materials intended solely for healthcare professionals.
By closing this message, you confirm that you are a certified medical professional or a student of a medical educational institution.

Login
EN
+7 (495) 482-4118
+7 (495) 482-0604

  • © 1998-2025
+7 (495) 482-43-29
EN
All journals
Journal
Year
Year
Search result: 0

Zuev A.S.

Research Institute of Medical Genetics — Tomsk National Research Medical Center

Fonova E.A.

Research Institute of Medical Genetics — Tomsk National Research Medical Center;
Siberian State Medical University

Demeneva V.V.

Research Institute of Medical Genetics — Tomsk National Research Medical Center

Zarubin A.A.

Research Institute of Medical Genetics — Tomsk National Research Medical Center

Podus A.A.

Research Institute of Medical Genetics — Tomsk National Research Medical Center

Minaycheva L.I.

Research Institute of Medical Genetics — Tomsk National Research Medical Center

Seitova G.N.

Research Institute of Medical Genetics — Tomsk National Research Medical Center

Sivokha V.M.

Research Institute of Medical Genetics — Tomsk National Research Medical Center

Kraeva L.S.

Siberian State Medical University

Lebedev I.N.

Research Institute of Medical Genetics — Tomsk National Research Medical Center;
Siberian State Medical University

A variant of p.Arg1623Gln of the DYNC1H1 gene in a patient with corpus callosum agenesis, polydactyly, mental development disorder, and neuromuscular system disorders

Authors:

Zuev A.S., Fonova E.A., Demeneva V.V., Zarubin A.A., Podus A.A., Minaycheva L.I., Seitova G.N., Sivokha V.M., Kraeva L.S., Lebedev I.N.

More about the authors

Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2025;125(2): 137‑142

DOI: 10.17116/jnevro2025125021137

Views: 479

Downloaded: 1

Buy for 300₽
Contact the author
Table of contents

A VARIANT OF P.ARG1623GLN OF THE DYNC1H1 GENE IN A PATIENT WITH CORPUS CALLOSUM AGENESIS, POLYDACTYLY, MENTAL DEVELOPMENT DISORDER, AND NEUROMUSCULAR SYSTEM DISORDERS
A VARIANT OF P.ARG1623GLN OF THE DYNC1H1 GENE IN A PATIENT WITH CORPUS CALLOSUM AGENESIS, POLYDACTYLY, MENTAL DEVELOPMENT DISORDER, AND NEUROMUSCULAR SYSTEM DISORDERS

To cite this article:

Zuev AS, Fonova EA, Demeneva VV, et al. . A variant of p.Arg1623Gln of the DYNC1H1 gene in a patient with corpus callosum agenesis, polydactyly, mental development disorder, and neuromuscular system disorders. S.S. Korsakov Journal of Neurology and Psychiatry. 2025;125(2):137‑142. (In Russ.)
https://doi.org/10.17116/jnevro2025125021137

 
Подписка 2025-2 (S.S. Korsakov Journal of Neurology and Psychiatry)
 
МСФ на ЯМ
Close metadata
Recommended articles:
Neurophysiological substantiation and vali­dity asse­ssment of manual muscle testing in clinical practice. (A lite­rature review). Problems of Balneology, Physiotherapy and Exercise Therapy. 2024;(4):70-77
Physical medi­cal reha­bilitation of patients with dystrophinopathies: dyna­mics of the disease’s course considering clinical anthropometric indi­cators. Problems of Balneology, Physiotherapy and Exercise Therapy. 2024;(6):31-39
Static delay exercises for improvement of proprioception and move­ments control in children with impaired inte­lligence (on the example of walking pattern correction). Problems of Balneology, Physiotherapy and Exercise Therapy. 2025;(1):32-36

DYNC1H1 encodes the heavy chain of dynein 1, a protein that plays a critical role in intracellular transport and is also involved in neurogenesis, bipolar spindle apparatus formation, and interaction with certain regulatory proteins. Many variants of the gene are described in various neuromuscular, psychoneurological, congenital abnormalities, and malignancies. In this clinical case, the correlation of clinical manifestations with molecular genetic changes of the DYNC1H1 gene was evaluated. A variant was identified and presented de novo in the linker domain of the protein in a patient with abnormalities of brain development (pachygyria of the temporal and frontal lobes, polymicrogyria of the occipital lobes, cerebellar agenesis), polydactylitis, mental development disorder, and involvement of the neuromuscular system, as well as congenital cataracts. In this case, a new feature is described — polydactyly — not previously described in the variant c.4868G>A (p.Arg1623Gln), which expands the range of clinical manifestations and can contribute to the understanding of the mechanisms of phenotypic heterogeneity, as well as the development of optimal diagnostic algorithms.

Keywords:

DYNC1H1
dynein
c.4868G>A
p.Arg1623Gln
neuromuscular diseases
mental retardation
agenesis of the corpus callosum
polydactyly

Authors:

Zuev A.S.

Research Institute of Medical Genetics — Tomsk National Research Medical Center

Fonova E.A.

Research Institute of Medical Genetics — Tomsk National Research Medical Center;
Siberian State Medical University

Demeneva V.V.

Research Institute of Medical Genetics — Tomsk National Research Medical Center

Zarubin A.A.

Research Institute of Medical Genetics — Tomsk National Research Medical Center

Podus A.A.

Research Institute of Medical Genetics — Tomsk National Research Medical Center

Minaycheva L.I.

Research Institute of Medical Genetics — Tomsk National Research Medical Center

Seitova G.N.

Research Institute of Medical Genetics — Tomsk National Research Medical Center

Sivokha V.M.

Research Institute of Medical Genetics — Tomsk National Research Medical Center

Kraeva L.S.

Siberian State Medical University

Lebedev I.N.

Research Institute of Medical Genetics — Tomsk National Research Medical Center;
Siberian State Medical University

Received:

17.10.2024

Accepted:

08.11.2024

List of references:

  1. Hoang HT, Schlager MA, Carter AP, Bullock SL. DYNC1H1 mutations associated with neurological diseases compromise processivity of dynein-dynactin-cargo adaptor complexes. Proc Natl Acad Sci U S A. 2017;114(9):E1597-E1606. https://doi.org/10.1073/pnas.1620141114
  2. Amabile S, Jeffries L, McGrath JM, et al. DYNC1H1-related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants [published correction appears in Am J Med Genet A. 2022;188(8):2512. https://doi.org/10.1002/ajmg.a.61729
  3. Ge WR, Fu PP, Zhang WN, et al. Case report: Genotype and phenotype of DYNC1H1-related malformations of cortical development: a case report and literature review. Front Neurol. 2023;14:1163803. https://doi.org/10.3389/fneur.2023.1163803
  4. Su T, Yan Y, Hu Q, et al. De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformations. Mol Genet Genomic Med. 2022;10(3):e1874. https://doi.org/10.1002/mgg3.1874
  5. Poirier K, Lebrun N, Broix L, et al. Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly [published correction appears in Nat Genet. 2013;45(8):962]. Nat Genet. 2013;45(6):639-647.  https://doi.org/10.1038/ng.2613
  6. Lin Z, Liu Z, Li X, et al. Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathies. Sci Rep. 2017;7;258.  https://doi.org/10.1038/s41598-017-00208-6
  7. Schiavo G, Greensmith L, Hafezparast M, Fisher EM. Cytoplasmic dynein heavy chain: the servant of many masters. Trends Neurosci. 2013;36(11):641-651.  https://doi.org/10.1016/j.tins.2013.08.001
  8. Ryzhkova OP, Kardymon OL, Prokhorchuk EB, et al. Guidelines for interpretation of human DNA sequence data obtained by massively parallel sequencing (MPS) methods (revision 2018, version 2). Medical Genetics. 2019;18(2):3-23. (In Russ.). https://doi.org/10.25557/2073-7998.2019.02.3-23
  9. Willemsen MH, Vissers LE, Willemsen MA, et al. Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects. J Med Genet. 2012;49(3):179-183.  https://doi.org/10.1136/jmedgenet-2011-100542
  10. Romero DM, Zaidi D, Cifuentes-Diaz C, et al. A human dynein heavy chain mutation impacts cortical progenitor cells causing developmental defects, reduced brain size and altered brain architecture. Neurobiol Dis. 2023;180:106085. https://doi.org/10.1016/j.nbd.2023.106085
  11. Matsumoto A, Kojima K, Miya F, et al. Two cases of DYNC1H1 mutations with intractable epilepsy. Brain Dev. 2021;43(8):857-862.  https://doi.org/10.1016/j.braindev.2021.05.005
  12. Vissers LE, de Ligt J, Gilissen C, et al. A de novo paradigm for mental retardation. Nat Genet. 2010;42(12):1109-1112. https://doi.org/10.1038/ng.712
  13. Hayashi S, Uehara DT, Tanimoto K, et al. Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH). PLoS One. 2017;12(8):e0181791. https://doi.org/10.1371/journal.pone.0181791
  14. Becker LL, Dafsari HS, Schallner J, et al. The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification. J Hum Genet. 2020;65(11):1003-1017. https://doi.org/10.1038/s10038-020-0803-1
  15. Dafsari HS, Becker LL, von der Hagen M, Cirak S. Genomic profiling in neuronal dyneinopathies and updated classifications. Am J Med Genet A. 2021;185(8):2607-2610. https://doi.org/10.1002/ajmg.a.62243
  16. Liu W, Cheng M, Zhu Y, et al. DYNC1H1-related epilepsy: Genotype-phenotype correlation. Dev Med Child Neurol. 2023;65(4):534-543.  https://doi.org/10.1111/dmcn.15414
  17. Deciphering Developmental Disorders Study. Prevalence and architecture of de novo mutations in developmental disorders. Nature. 2017;542:433-438.  https://doi.org/10.1038/nature21062
  18. Di Donato N, Timms AE, Aldinger KA, et al. Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. Genet Med. 2018;20(11):1354-1364. https://doi.org/10.1038/gim.2018.8

Close metadata

Contact the author
Email
Message
The publishing house "Media Sphere" does not provide treatment services, does not give recommendations on contacting medical institutions and specific specialists, on the prescription of medicines and dietary supplements.

Email Confirmation

An email was sent to test@gmail.com with a confirmation link. Follow the link from the letter to complete the registration on the site.

Email Confirmation

Contact us
If you have any questions, complaints or suggestions, please use this feedback form.
Email
Message
The publishing house "Media Sphere" does not provide treatment services, does not give recommendations on contacting medical institutions and specific specialists, on the prescription of medicines and dietary supplements.
Submit Application

You can become an author of one of our magazines, send a request and we will consider it in during the day.

Name
Phone
E-mail
Message
Login
Registration
E-mail
Password
Forgot Password?

Log in to the site using your account in one of the services

Password recovery
E-mail
Login
Register

We use cооkies to improve the performance of the site. By staying on our site, you agree to the terms of use of cооkies. To view our Privacy and Cookie Policy, please. click here.