The first case of intellectual disability caused by novel compound heterozygosity for NUDT2 variants

• Main Authors: Bo Bi (Author), Xiaohong Chen (Author), Shan Huang (Author), Min Peng (Author), Weiyue Gu (Author), Hongmin Zhu (Author), Yangcan Ming (Author)
• Format: Book
• Published: BMC, 2024-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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 defi...