Novel NUDT2 variant causes intellectual disability and polyneuropathy

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...

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Published inAnnals of clinical and translational neurology Vol. 7; no. 11; pp. 2320 - 2325
Main Authors Diaz, Frank, Khosa, Shaweta, Niyazov, Dmitriy, Lee, Hane, Person, Richard, Morrow, Michelle M., Signer, Rebecca, Dorrani, Naghmeh, Zheng, Allison, Herzog, Matthew, Freundlich, Robert, Birath, J. Brandon, Cervantes‐Manzo, Yurivia, Martinez‐Agosto, Julian A., Palmer, Christina, Nelson, Stanley F., Fogel, Brent L., Mishra, Shri K.
Format Journal Article
LanguageEnglish
Published United States John Wiley & Sons, Inc 01.11.2020
John Wiley and Sons Inc
Wiley
Subjects
Age
Biopsy
Brain research
Brief Communication
Brief Communications
Deoxyribonucleic acid
DNA
Dysarthria
Electromyography
Gait
Genetic counseling
Genomes
Intellectual disabilities
Magnetic resonance imaging
Patients
Siblings
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Summary: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.
Bibliography:This work was supported by NIH Grant U01HG007703 and the California Center for Rare Diseases at UCLA.
Funding Information
ObjectType-Case Study-3
ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-4
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ObjectType-Report-2
ISSN:2328-9503
2328-9503
DOI:10.1002/acn3.51209