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DYNC1H1-Related Disorders.
Möller B, Coppola A, Jungbluth H, Dafsari HS. Möller B, et al. 2024 Mar 21. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2024 Mar 21. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 38513047 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: DYNC1H1-related disorders are primarily characterized by an axonal neuropathy with a wide phenotypic spectrum ranging from a neuromuscular-only phenotype (DYNC1H1-related neuromuscular disorder, or DYNC1H1-NMD) to phenotypes involvin …
CLINICAL CHARACTERISTICS: DYNC1H1-related disorders are primarily characterized by an axonal neuropathy with a wide phenotypic spectr …
DYNC1H1-related epilepsy: Genotype-phenotype correlation.
Liu W, Cheng M, Zhu Y, Chen Y, Yang Y, Chen H, Niu X, Tian X, Yang X, Zhang Y. Liu W, et al. Dev Med Child Neurol. 2023 Apr;65(4):534-543. doi: 10.1111/dmcn.15414. Epub 2022 Sep 29. Dev Med Child Neurol. 2023. PMID: 36175372 Free article.
WHAT THIS PAPER ADDS: Nearly 40% of patients with DYNC1H1 variants had epilepsy. Ninety-two percent of patients with DYNC1H1-related epilepsy had malformation of cortical development. More than 10% of patients with DYNC1H1-related epilepsy were diagnosed with …
WHAT THIS PAPER ADDS: Nearly 40% of patients with DYNC1H1 variants had epilepsy. Ninety-two percent of patients with DYNC1H1-r …
The expanding clinical and genetic spectrum of DYNC1H1-related disorders.
Möller B, Becker LL, Saffari A, Afenjar A, Coci EG, Williamson R, Ward-Melver C, Gibaud M, Sedláčková L, Laššuthová P, Libá Z, Vlčková M, William N, Klee EW, Gavrilova RH, Lévy J, Capri Y, Scavina M, Körner RW, Valivullah Z, Weiß C, Möller GM, Frazier Z, Roberts A, Gener B, Scala M, Striano P, Zara F, Thiel M, Sinnema M, Kamsteeg EJ, Donkervoort S, Duboc V, Zaafrane-Khachnaoui K, Elkhateeb N, Selim L, Margot H, Marin V, Beneteau C, Isidor B, Cogne B, Keren B, Küsters B, Beggs AH, Sveden A, Chopra M, Genetti CA, Nicolai J, Dötsch J, Koy A, Bönnemann CG, von der Hagen M, von Kleist-Retzow JC, Voermans NC, Jungbluth H, Dafsari HS. Möller B, et al. Brain. 2025 Feb 3;148(2):597-612. doi: 10.1093/brain/awae183. Brain. 2025. PMID: 38848546 Free PMC article.
The cytoplasmic dynein 1 heavy chain protein (DYNC1H1) serves as a core complex for retrograde trafficking in neuronal axons. Dominant pathogenic variants in DYNC1H1 have been previously implicated in peripheral neuromuscular disorders (NMD) and neurodevelopmental d …
The cytoplasmic dynein 1 heavy chain protein (DYNC1H1) serves as a core complex for retrograde trafficking in neuronal axons. Dominan …
Patient-specific mutation of Dync1h1 in mice causes brain and behavioral deficits.
Ramos RL, De Heredia MMB, Zhang Y, Stout RF, Tindi JO, Wu L, Schwartz GJ, Botbol YM, Sidoli S, Poojari A, Rakowski-Anderson T, Shafit-Zagardo B. Ramos RL, et al. Neurobiol Dis. 2024 Sep;199:106594. doi: 10.1016/j.nbd.2024.106594. Epub 2024 Jul 16. Neurobiol Dis. 2024. PMID: 39025270 Free article.
In humans, mutations along the DYNC1H1 gene result in intellectual disabilities, cognitive delays, and neurologic and motor deficits. ...Our results are discussed in the context of other dynein mutant mice and in relation to clinical presentation in humans with DYNC1H1 …
In humans, mutations along the DYNC1H1 gene result in intellectual disabilities, cognitive delays, and neurologic and motor deficits. …
A novel variant in DYNC1H1 could contribute to human amyotrophic lateral sclerosis-frontotemporal dementia spectrum.
Mentis AA, Vlachakis D, Papakonstantinou E, Zaganas I, Patrinos GP, Chrousos GP, Dardiotis E. Mentis AA, et al. Cold Spring Harb Mol Case Stud. 2022 Mar 24;8(2):a006096. doi: 10.1101/mcs.a006096. Print 2022 Feb. Cold Spring Harb Mol Case Stud. 2022. PMID: 34535505 Free PMC article. Review.
Here, we present a patient with a cytoplasmic dynein 1 heavy chain 1 (DYNC1H1) pathogenic variant who fulfilled the ALS El Escorial criteria, and we review relevant literature. Using whole-exome sequencing, we identified a deleterious point variant in DYNC1H1 (c.410 …
Here, we present a patient with a cytoplasmic dynein 1 heavy chain 1 (DYNC1H1) pathogenic variant who fulfilled the ALS El Escorial c …
DYNC1H1 variant associated with epilepsy: Expanding the phenotypic spectrum.
Chung CT, Lee NC, Fan SP, Hung MZ, Lin YH, Chen CH, Jao T. Chung CT, et al. Epilepsy Behav Rep. 2022 Dec 28;21:100580. doi: 10.1016/j.ebr.2022.100580. eCollection 2023. Epilepsy Behav Rep. 2022. PMID: 36636459 Free PMC article.
DYNC1H1 variants are associated with peripheral neuronal dysfunction and brain morphology abnormalities resulting in neurodevelopmental delay. However, few studies have focused on the association between DYNC1H1 variants and epilepsy. Herein, we report a case of dru …
DYNC1H1 variants are associated with peripheral neuronal dysfunction and brain morphology abnormalities resulting in neurodevelopment …
DYNC1H1 variants associated with infant-onset epilepsy without neurodevelopmental disorders.
Wu WC, Liang XY, Zhang DM, Jin L, Liu ZG, Zeng XL, Zhai QX, Liao WP, He N, Meng XH. Wu WC, et al. Seizure. 2024 Mar;116:119-125. doi: 10.1016/j.seizure.2023.10.010. Epub 2023 Oct 27. Seizure. 2024. PMID: 37903666 Free article.
OBJECTIVES: The DYNC1H1 variants are associated with abnormal brain morphology and neuromuscular disorders that are accompanied by epilepsy. ...Previously reported epilepsy-related DYNC1H1 variants were systematically reviewed to analyse genotype-phenotype correlati …
OBJECTIVES: The DYNC1H1 variants are associated with abnormal brain morphology and neuromuscular disorders that are accompanied by ep …
De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformations.
Su T, Yan Y, Hu Q, Liu Y, Xu S. Su T, et al. Mol Genet Genomic Med. 2022 Mar;10(3):e1874. doi: 10.1002/mgg3.1874. Epub 2022 Jan 31. Mol Genet Genomic Med. 2022. PMID: 35099838 Free PMC article.
BACKGROUND: The human dynein cytoplasmic 1 heavy chain 1 (DYNC1H1) gene encodes a large subunit of the cytoplasmic dynein complex. DYNC1H1 mutations are associated with various neurological diseases involving both the peripheral and central nervous systems. METHODS: …
BACKGROUND: The human dynein cytoplasmic 1 heavy chain 1 (DYNC1H1) gene encodes a large subunit of the cytoplasmic dynein complex. …
Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.
Cuccurullo C, Cerulli Irelli E, Ugga L, Riva A, D'Amico A, Cabet S, Lesca G, Bilo L, Zara F, Iliescu C, Barca D, Fung F, Helbig K, Ortiz-Gonzalez X, Schelhaas HJ, Willemsen MH, van der Linden I, Canafoglia L, Courage C, Gommaraschi S, Gonzalez-Alegre P, Bardakjian T, Syrbe S, Schuler E, Lemke JR, Vari S, Roende G, Bak M, Huq M, Powis Z, Johannesen KM, Hammer TB, Møller RS, Rabin R, Pappas J, Zupanc ML, Zadeh N, Cohen J, Naidu S, Krey I, Saneto R, Thies J, Licchetta L, Tinuper P, Bisulli F, Minardi R, Bayat A, Villeneuve N, Molinari F, Salimi Dafsari H, Moller B, Le Roux M, Houdayer C, Vecchi M, Mammi I, Fiorini E, Proietti J, Ferri S, Cantalupo G, Battaglia DI, Gambardella ML, Contaldo I, Brogna C, Trivisano M, De Dominicis A, Bova SM, Gardella E, Striano P, Coppola A. Cuccurullo C, et al. Epilepsia. 2024 Sep;65(9):2728-2750. doi: 10.1111/epi.18054. Epub 2024 Jul 2. Epilepsia. 2024. PMID: 38953796
DYNC1H1-related epilepsy has been reported in small cohorts. We dissect the electroclinical features of 34 patients harboring de novo DYNC1H1 pathogenic variants, identify subphenotypes on the DYNC1H1-related epilepsy spectrum, and compare the genotype-phenot …
DYNC1H1-related epilepsy has been reported in small cohorts. We dissect the electroclinical features of 34 patients harboring de novo …
Loss of Dnah5 Downregulates Dync1h1 Expression, Causing Cortical Development Disorders and Congenital Hydrocephalus.
Sakamoto K, Miyajima M, Nakajima M, Ogino I, Horikoshi K, Miyahara R, Kawamura K, Karagiozov K, Kamohara C, Nakamura E, Tada N, Kondo A. Sakamoto K, et al. Cells. 2024 Nov 14;13(22):1882. doi: 10.3390/cells13221882. Cells. 2024. PMID: 39594631 Free PMC article.
Ventricular enlargement occurred rapidly, with a 25% reduction in the number of mature neurons in the motor cortex. Dync1h1 expression was decreased, while cytoplasmic dynein levels were 56.3% lower. Levels of nestin and N-cadherin in the lateral ventricular walls decrease …
Ventricular enlargement occurred rapidly, with a 25% reduction in the number of mature neurons in the motor cortex. Dync1h1 expressio …
206 results