Novel NUDT2 variant causes intellectual disability and polyneuropathy
Abstract 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...
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| Format: | Article |
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Wiley
2020-11-01
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| Series: | Annals of Clinical and Translational Neurology |
| Online Access: | https://doi.org/10.1002/acn3.51209 |
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doaj-a293335fdb084d1fa6a06c767cefacc12021-05-03T01:27:18ZengWileyAnnals of Clinical and Translational Neurology2328-95032020-11-017112320232510.1002/acn3.51209Novel NUDT2 variant causes intellectual disability and polyneuropathyFrank Diaz0Shaweta Khosa1Dmitriy Niyazov2Hane Lee3Richard Person4Michelle M. Morrow5Rebecca Signer6Naghmeh Dorrani7Allison Zheng8Matthew Herzog9Robert Freundlich10Undiagnosed Diseases NetworkJ. Brandon Birath11Yurivia Cervantes‐Manzo12Julian A. Martinez‐Agosto13Christina Palmer14Stanley F. Nelson15Brent L. Fogel16Shri K. Mishra17Department of Neurology Olive View‐UCLA Medical Center Sylmar California USADepartment of Neurology David Geffen School of Medicine at UCLA Los Angeles California USADepartment of Pediatrics Ochsner Children's Health Center New Orleans Louisiana USADepartment of Pathology and Laboratory Medicine David Geffen School of Medicine at UCLA Los Angeles California USAGeneDx, Inc. Gaithersburg Maryland USAGeneDx, Inc. Gaithersburg Maryland USADepartment of Human Genetics David Geffen School of Medicine at UCLA Los Angeles California USADepartment of Pediatrics David Geffen School of Medicine at UCLA Los Angeles California USADepartment of Pediatrics David Geffen School of Medicine at UCLA Los Angeles California USADepartment of Pediatrics David Geffen School of Medicine at UCLA Los Angeles California USADepartment of Neurology Olive View‐UCLA Medical Center Sylmar California USADepartment of Neurology Olive View‐UCLA Medical Center Sylmar California USADepartment of Neurology Olive View‐UCLA Medical Center Sylmar California USADepartment of Human Genetics David Geffen School of Medicine at UCLA Los Angeles California USADepartment of Human Genetics David Geffen School of Medicine at UCLA Los Angeles California USADepartment of Neurology David Geffen School of Medicine at UCLA Los Angeles California USADepartment of Neurology David Geffen School of Medicine at UCLA Los Angeles California USADepartment of Neurology Olive View‐UCLA Medical Center Sylmar California USAAbstract 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.https://doi.org/10.1002/acn3.51209 |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Frank Diaz Shaweta Khosa Dmitriy Niyazov Hane Lee Richard Person Michelle M. Morrow Rebecca Signer Naghmeh Dorrani Allison Zheng Matthew Herzog Robert Freundlich Undiagnosed Diseases Network J. Brandon Birath Yurivia Cervantes‐Manzo Julian A. Martinez‐Agosto Christina Palmer Stanley F. Nelson Brent L. Fogel Shri K. Mishra |
| spellingShingle |
Frank Diaz Shaweta Khosa Dmitriy Niyazov Hane Lee Richard Person Michelle M. Morrow Rebecca Signer Naghmeh Dorrani Allison Zheng Matthew Herzog Robert Freundlich Undiagnosed Diseases Network J. Brandon Birath Yurivia Cervantes‐Manzo Julian A. Martinez‐Agosto Christina Palmer Stanley F. Nelson Brent L. Fogel Shri K. Mishra Novel NUDT2 variant causes intellectual disability and polyneuropathy Annals of Clinical and Translational Neurology |
| author_facet |
Frank Diaz Shaweta Khosa Dmitriy Niyazov Hane Lee Richard Person Michelle M. Morrow Rebecca Signer Naghmeh Dorrani Allison Zheng Matthew Herzog Robert Freundlich Undiagnosed Diseases Network J. Brandon Birath Yurivia Cervantes‐Manzo Julian A. Martinez‐Agosto Christina Palmer Stanley F. Nelson Brent L. Fogel Shri K. Mishra |
| author_sort |
Frank Diaz |
| title |
Novel NUDT2 variant causes intellectual disability and polyneuropathy |
| title_short |
Novel NUDT2 variant causes intellectual disability and polyneuropathy |
| title_full |
Novel NUDT2 variant causes intellectual disability and polyneuropathy |
| title_fullStr |
Novel NUDT2 variant causes intellectual disability and polyneuropathy |
| title_full_unstemmed |
Novel NUDT2 variant causes intellectual disability and polyneuropathy |
| title_sort |
novel nudt2 variant causes intellectual disability and polyneuropathy |
| publisher |
Wiley |
| series |
Annals of Clinical and Translational Neurology |
| issn |
2328-9503 |
| publishDate |
2020-11-01 |
| description |
Abstract 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. |
| url |
https://doi.org/10.1002/acn3.51209 |
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