A novel CUL4B splice site variant in a young male exhibiting less pronounced features-Reference-Cited by-同舟云学术

A novel CUL4B splice site variant in a young male exhibiting less pronounced features

Published:2019-09-04 Issue:1 Volume:6 Page:
ISSN:2054-345X
Container-title:Human Genome Variation
language:en
Short-container-title:Hum Genome Var

Author:

Nakamura Yuji,Okuno Yusuke^ORCID,Muramatsu Hideki,Kawai Tomoko^ORCID,Satou Kazuhito,Ieda Daisuke,Hori Ikumi^ORCID,Ohashi Kei,Negishi Yutaka,Hattori Ayako,Takahashi Yoshiyuki,Kojima Seiji,Saitoh Shinji^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Biochemistry

Link

http://www.nature.com/articles/s41439-019-0074-6.pdf

Reference15 articles.

1. Liu, L. et al. Essential role of the CUL4B ubiquitin ligase in extra-embryonic tissue development during mouse embryogenesis. Cell Res. 22, 1258–1269 (2012).

2. Tarpey, P. S. et al. Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor. Am. J. Hum. Genet 80, 345–352 (2007).

3. Weissbach, S. et al. A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy. Am. J. Med Genet A 173, 2803–2807 (2017).

4. Hu, H. et al. X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. Mol. Psychiatry 21, 133–148 (2016).

5. Grozeva, D. et al. Targeted next-generation sequencing analysis of 1,000 individuals with intellectual disability. Hum. Mutat. 36, 1197–1204 (2015).

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