Clinical report and genetic analysis of a novel variant in ZMIZ1 causing neurodevelopmental disorder with dysmorphic factors and distal skeletal anomalies in a Chinese family

Beliakoff J, Lee J, Ueno H, Aiyer A, Weissman IL, Barsh GS, Cardiff RD, Sun Z (2007) The PIAS-like protein Zimp10 is essential for embryonic viability and proper vascular development. Mol Cell Biol 28:282–292

Article  PubMed  PubMed Central  Google Scholar 

Carapito R, Ivanova EL, Morlon A, Meng L, Molitor A, Erdmann E, Kieffer B, Pichot A, Naegely L, Kolmer A et al (2019) ZMIZ1 variants cause a syndromic neurodevelopmental disorder. Am J Hum Genet 104:319–330

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chong S, Dugast-Darzacq C, Liu Z, Dong P, Dailey GM, Cattoglio C, Heckert A, Banala S, Lavis L, Darzacq X et al (2018) Imaging dynamic and selective low-complexity domain interactions that control gene transcription. Science 361:eaar2555

Article  PubMed  PubMed Central  Google Scholar 

Latchman K, Calder M, Morel D, Rhodes L, Juusola J, Tekin M (2020) Autosomal dominant inheritance in a recently described ZMIZ1-related neurodevelopmental disorder: Case report of siblings and an affected parent. Am J Med Genet A 182:548–552

Article  CAS  PubMed  Google Scholar 

Lee J, Beliakoff J, Sun Z (2007) The novel PIAS-like protein hZimp10 is a transcriptional co-activator of the p53 Tumor suppressor. Nucleic Acids Res 35:4523–4534

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lu G, Ma L, Xu P, Xian B, Wu L, Ding J, He X, Xia H, Ding W, Yang Z et al (2022) A De Novo ZMIZ1 pathogenic variant for neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies. Front Genet 13:840577

Article  CAS  PubMed  PubMed Central  Google Scholar 

Phetthong T, Khongkrapan A, Jinawath N, Seo GH, Wattanasirichaigoon D (2021) Compound heterozygote of Point Mutation and Chromosomal Microdeletion Involving OTUD6B coinciding with ZMIZ1 variant in Syndromic Intellectual disability. Genes (Basel) 12:1583

Article  CAS  PubMed  Google Scholar 

Pinnell N, Yan R, Cho HJ, Keeley T, Murai MJ, Liu Y, Alarcon AS, Qin J, Wang Q, Kuick R et al (2015) The PIAS-like Coactivator Zmiz1 is a direct and selective cofactor of Notch1 in T Cell Development and Leukemia. Immunity 43:870–883

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rakowski LA, Garagiola DD, Li CM, Decker M, Caruso S, Jones M, Kuick R, Cierpicki T, Maillard I, Chiang MY (2013) Convergence of the ZMIZ1 and NOTCH1 pathways at C-MYC in acute T lymphoblastic leukemias. Cancer Res 73:930–941

Article  CAS  PubMed  Google Scholar 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E et al (2015) 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 17:405–424

Article  PubMed  PubMed Central  Google Scholar 

Rodriguez-Magadán H, Merino E, Schnabel D, Ramírez L, Lomelí H (2008) Spatial and temporal expression of Zimp7 and Zimp10 PIAS-like proteins in the developing mouse embryo. Gene Expr Patterns 8:206–213

Article  PubMed  Google Scholar 

Rodríguez-Magadán H, Ramírez L, Schnabel D, Vázquez M, Lomelí H (2010) Sexually dimorphic gene expression of the Zimp7 and Zimp10 genes in embryonic gonads. Gene Expr Patterns 10:16–23

Article  PubMed  Google Scholar 

Sharma M, Li X, Wang Y, Zarnegar M, Huang CY, Palvimo JJ, Lim B, Sun Z (2003) hZimp10 is an androgen receptor co-activator and forms a complex with SUMO-1 at replication foci. EMBO J 22:6101–6214

Article  CAS  PubMed  PubMed Central  Google Scholar 

Shuai K, Liu B (2005) Regulation of gene-activation pathways by PIAS proteins in the immune system. Nat Rev Immunol 5:593–605

Article  CAS  PubMed  Google Scholar 

Yan B, Raben N, Plotz PH (2002) Hes-1, a known transcriptional repressor, acts as a transcriptional activator for the human acid alpha-glucosidase gene in human fibroblast cells. Biochem Biophys Res Commun 291:582–587

Article  CAS  PubMed  Google Scholar 

Zhou B, Lin W, Long Y, Yang Y, Zhang H, Wu K, Chu Q (2022) Notch signaling pathway: architecture, Disease, and therapeutics. Signal Transduct Target Ther 7:95

Article  PubMed  PubMed Central  Google Scholar 

留言 (0)

沒有登入
gif