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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

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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 2026 Журнал неврологии и психиатрии им. С.С. Корсакова (S.S. Korsakov Journal of Neurology and Psychiatry)
 
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Использование инфографики авторами научных работ
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Abstract:

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

Close metadata

References:

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