OTUD6B-associated intellectual disability: novel variants and genetic exclusion of retinal degeneration as part of a refined phenotype-Reference-Cited by-同舟云学术

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OTUD6B-associated intellectual disability: novel variants and genetic exclusion of retinal degeneration as part of a refined phenotype

Published:2021-08-05 Issue:1 Volume:67 Page:55-64
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Abdel-Salam Ghada M. H.,Abdel-Hamid Mohamed S.,Sayed Inas S. M.,Zechner Ulrich,Bolz Hanno Jörn

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/s10038-021-00966-2.pdf

Reference16 articles.

1. Garret P, Ebstein F, Delplancq G, Dozieres-Puyravel B, Boughalem A, Auvin S, et al. Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction. Clin Genet. 2020;97:567–75. https://pubmed.ncbi.nlm.nih.gov/31997314/.

2. Santiago-Sim T, Burrage LC, Ebstein F, Tokita MJ, Miller M, Bi W, et al. Biallelic variants in OTUD6B cause an intellectual disability syndrome associated with seizures and dysmorphic features. Am J Hum Genet. 2017;100:676–88. https://pubmed.ncbi.nlm.nih.gov/28343629/.

3. Kowalski JR, Juo P. The role of deubiquitinating enzymes in synaptic function and nervous system diseases. Neural Plast. 2012;2012:892749. https://pubmed.ncbi.nlm.nih.gov/23316392/.

4. Homan CC, Kumar R, Nguyen LS, Haan E, Raymond FL, Abidi F, et al. Mutations in USP9X are associated with x-linked intellectual disability and disrupt neuronal cell migration and growth. Am J Hum Genet. 2014;94:470–8. https://pubmed.ncbi.nlm.nih.gov/24607389/.

5. Hu H, Brittain GC, Chang JH, Puebla-Osorio N, Jin J, Zal A, et al. OTUD7B controls non-canonical NF-κB activation through deubiquitination of TRAF3. Nature. 2013;494:371–4. https://pubmed.ncbi.nlm.nih.gov/23334419/.

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