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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 in: | Annals of clinical and translational neurology 2020-11, Vol.7 (11), p.2320-2325 |
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| container_end_page | 2325 |
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| container_title | Annals of clinical and translational neurology |
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| creator | 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. |
| description | 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. |
| doi_str_mv | 10.1002/acn3.51209 |
| format | article |
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Brandon ; Cervantes‐Manzo, Yurivia ; Martinez‐Agosto, Julian A. ; Palmer, Christina ; Nelson, Stanley F. ; Fogel, Brent L. ; Mishra, Shri K.</creator><creatorcontrib>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. ; Undiagnosed Diseases Network ; Undiagnosed Diseases Network</creatorcontrib><description>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.</description><identifier>ISSN: 2328-9503</identifier><identifier>EISSN: 2328-9503</identifier><identifier>DOI: 10.1002/acn3.51209</identifier><identifier>PMID: 33058507</identifier><language>eng</language><publisher>United States: John Wiley & Sons, Inc</publisher><subject>Age ; Biopsy ; Brain research ; Brief Communication ; Brief Communications ; Deoxyribonucleic acid ; DNA ; Dysarthria ; Electromyography ; Gait ; Genetic counseling ; Genomes ; Intellectual disabilities ; Magnetic resonance imaging ; Patients ; Siblings</subject><ispartof>Annals of clinical and translational neurology, 2020-11, Vol.7 (11), p.2320-2325</ispartof><rights>2020 The Authors. published by Wiley Periodicals LLC on behalf of American Neurological Association</rights><rights>2020 The Authors. 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| ispartof | Annals of clinical and translational neurology, 2020-11, Vol.7 (11), p.2320-2325 |
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| source | Open Access: PubMed Central; Publicly Available Content (ProQuest); Wiley Open Access |
| 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 |
| title | Novel NUDT2 variant causes intellectual disability and polyneuropathy |
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