The main objective is to understand Novel NUDT2 variant causes intellectual disability and polyneuropathy . NUDT2 is situated on chromosome 9 at position 9p13.3 and encodes a protein of 147 amino acids.1 NUDT2 encodes for Nudix hydroxylase 2, which has a place with the Nudix (nucleoside diphosphate connected to x) hydrolase superfamily. A homozygous frameshift variation c.186delA (p.A63Qfs*3) in the NUDT2 quality was distinguished in cases 1 and 2 from one family and a third case from another family. Variations in NUDT2 were recently appeared to cause scholarly handicap, however here we grow the aggregate by exhibiting its relationship with distal upper and lower furthest point shortcoming because of a sensorimotor polyneuropathy with demyelinating as well as axonal highlights. it is thought to play an important role in a number of cellular processes, including the metabolism of toxic byproducts, DNA replication, and cell proliferation, among others,3, 4 and may be a prognostic marker in breast carcinomas.3 NUDT2 has been previously associated with intellectual disability in a small number of families,5, 6 suggesting a role in central nervous system development.
Reference link- https://onlinelibrary.wiley.com/doi/10.1002/acn3.51209