Novel NUDT2 variant causes intellectual disability and polyneuropathy.
Publication
, Journal Article
Diaz, F; Khosa, S; Niyazov, D; Lee, H; Person, R; Morrow, MM; Signer, R; Dorrani, N; Zheng, A; Herzog, M; Freundlich, R; Birath, JB ...
Published in: Ann Clin Transl Neurol
November 2020
Exome or genome sequencing was performed to identify the genetic etiology for the clinical presentation of global developmental delay, intellectual disability, and sensorimotor neuropathy with associated distal weakness in two unrelated families. A homozygous frameshift variant c.186delA (p.A63Qfs*3) in the NUDT2 gene was identified in cases 1 and 2 from one family and a third case from another family. Variants in NUDT2 were previously shown to cause intellectual disability, but here we expand the phenotype by demonstrating its association with distal upper and lower extremity weakness due to a sensorimotor polyneuropathy with demyelinating and/or axonal features.
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Published In
Ann Clin Transl Neurol
DOI
EISSN
2328-9503
Publication Date
November 2020
Volume
7
Issue
11
Start / End Page
2320 / 2325
Location
United States
Related Subject Headings
- Young Adult
- Polyneuropathies
- Phosphoric Monoester Hydrolases
- Pedigree
- Male
- Magnetic Resonance Imaging
- Intellectual Disability
- Humans
- Frameshift Mutation
- Female
Citation
APA
Chicago
ICMJE
MLA
NLM
Diaz, F., Khosa, S., Niyazov, D., Lee, H., Person, R., Morrow, M. M., … Mishra, S. K. (2020). Novel NUDT2 variant causes intellectual disability and polyneuropathy. Ann Clin Transl Neurol, 7(11), 2320–2325. https://doi.org/10.1002/acn3.51209
Diaz, Frank, Shaweta Khosa, Dmitriy Niyazov, Hane Lee, Richard Person, Michelle M. Morrow, Rebecca Signer, et al. “Novel NUDT2 variant causes intellectual disability and polyneuropathy.” Ann Clin Transl Neurol 7, no. 11 (November 2020): 2320–25. https://doi.org/10.1002/acn3.51209.
Diaz F, Khosa S, Niyazov D, Lee H, Person R, Morrow MM, et al. Novel NUDT2 variant causes intellectual disability and polyneuropathy. Ann Clin Transl Neurol. 2020 Nov;7(11):2320–5.
Diaz, Frank, et al. “Novel NUDT2 variant causes intellectual disability and polyneuropathy.” Ann Clin Transl Neurol, vol. 7, no. 11, Nov. 2020, pp. 2320–25. Pubmed, doi:10.1002/acn3.51209.
Diaz F, Khosa S, Niyazov D, Lee H, Person R, Morrow MM, Signer R, Dorrani N, Zheng A, Herzog M, Freundlich R, Undiagnosed Diseases Network, Birath JB, Cervantes-Manzo Y, Martinez-Agosto JA, Palmer C, Nelson SF, Fogel BL, Mishra SK. Novel NUDT2 variant causes intellectual disability and polyneuropathy. Ann Clin Transl Neurol. 2020 Nov;7(11):2320–2325.
Published In
Ann Clin Transl Neurol
DOI
EISSN
2328-9503
Publication Date
November 2020
Volume
7
Issue
11
Start / End Page
2320 / 2325
Location
United States
Related Subject Headings
- Young Adult
- Polyneuropathies
- Phosphoric Monoester Hydrolases
- Pedigree
- Male
- Magnetic Resonance Imaging
- Intellectual Disability
- Humans
- Frameshift Mutation
- Female