%0 Case Reports
%T The first case of intellectual disability caused by novel compound heterozygosity for NUDT2 variants.
%A Bi B
%A Chen X
%A Huang S
%A Peng M
%A Gu W
%A Zhu H
%A Ming Y
%J BMC Pediatr
%V 24
%N 1
%D 2024 Jan 19
%M 38243213
%F 2.567
%R 10.1186/s12887-024-04542-3
%X NUDT2 is an enzyme important for maintaining the intracellular level of the diadenosine tetraphosphate (Ap4A). Bi-allelic loss of function variants in NUDT2 has recently been reported as a rare cause of intellectual disability (ID). Herein, we describe a Chinese girl with ID, attention deficit hyperactivity disorder (ADHD), and motor delays with abnormal walking posture and difficulty climbing stairs, who bears compound heterozygous variants c.34 C > T (p.R12*) and c.194T > G (p.I65R) in NUDT2. Homozygous variants c.34 C > T (p.R12*) or c.186del (p.A63Qfs*3) in NUDT2 were previously reported to cause ID. This is the first patient with ID due to compound heterozygous variants in NUDT2 and p.I65R is a novel missense variant. This study enriched the genotype and phenotype of NUDT2-related ID and supported the critical developmental involvement of NUDT2.