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-Reference-Cited by-同舟云学术

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

Published:2023-12-20 Issue: Volume: Page:
ISSN:1976-9571
Container-title:Genes & Genomics
language:en
Short-container-title:Genes Genom

Author:

He Liting,Wang Yao,Pan Jiahua,Guo Limin,Zhou Haoquan,Zhang Lan

Funder

Anhui Province Key Research and Development Project

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Biochemistry

Link

https://link.springer.com/content/pdf/10.1007/s13258-023-01480-9.pdf

Reference16 articles.

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2. 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

3. 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

4. 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

5. 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