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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, Feldman J, 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, Feldman J, 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 …
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
Poirier K, Lebrun N, Broix L, Tian G, Saillour Y, Boscheron C, Parrini E, Valence S, Pierre BS, Oger M, Lacombe D, Geneviève D, Fontana E, Darra F, Cances C, Barth M, Bonneau D, Bernadina BD, N'guyen S, Gitiaux C, Parent P, des Portes V, Pedespan JM, Legrez V, Castelnau-Ptakine L, Nitschke P, Hieu T, Masson C, Zelenika D, Andrieux A, Francis F, Guerrini R, Cowan NJ, Bahi-Buisson N, Chelly J. Poirier K, et al. Nat Genet. 2013 Jun;45(6):639-47. doi: 10.1038/ng.2613. Epub 2013 Apr 21. Nat Genet. 2013. PMID: 23603762 Free PMC article.
Here we report the discovery of multiple pathogenic missense mutations in TUBG1, DYNC1H1 and KIF2A, as well as a single germline mosaic mutation in KIF5C, in subjects with MCD. We found a frequent recurrence of mutations in DYNC1H1, implying that this gene is a majo …
Here we report the discovery of multiple pathogenic missense mutations in TUBG1, DYNC1H1 and KIF2A, as well as a single germline mosa …
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 …
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 …
Charcot-Marie-Tooth Hereditary Neuropathy Overview.
Bird TD. Bird TD. 1998 Sep 28 [updated 2025 Jan 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 1998 Sep 28 [updated 2025 Jan 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301532 Free Books & Documents. Review.
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. …
DYNC1H1 regulates NSCLC cell growth and metastasis by IFN-gamma-JAK-STAT signaling and is associated with an aberrant immune response.
Pan H, Chai W, Liu X, Yu T, Sun L, Yan M. Pan H, et al. Exp Cell Res. 2021 Dec 1;409(1):112897. doi: 10.1016/j.yexcr.2021.112897. Epub 2021 Oct 27. Exp Cell Res. 2021. PMID: 34717919 Free article.
The functional significance and molecular mechanism of dynein cytoplasmic 1 heavy chain 1 (DYNC1H1) in nonsmall cell lung cancer (NSCLC) progression is still elusive. In our current study, publicly available data and Western blotting experiments confirmed that DYNC1H1 …
The functional significance and molecular mechanism of dynein cytoplasmic 1 heavy chain 1 (DYNC1H1) in nonsmall cell lung cancer (NSC …
196 results