Open AccessNovel NUDT2 variant causes intellectual disability and polyneuropathy
Author(s) -
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,
CervantesManzo Yurivia,
MartinezAgosto Julian A.,
Palmer Christina,
Nelson Stanley F.,
Fogel Brent L.,
Mishra Shri K.
Publication year - 2020
Publication title -
annals of clinical and translational neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.824
H-Index - 42
ISSN - 2328-9503
DOI - 10.1002/acn3.51209
Subject(s) - frameshift mutation , medicine , intellectual disability , exome sequencing , etiology , polyneuropathy , weakness , phenotype , physical medicine and rehabilitation , presentation (obstetrics) , genetics , pediatrics , gene , pathology , surgery , psychiatry , biology
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.