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

• Egile Nagusiak: Bo Bi (Egilea), Xiaohong Chen (Egilea), Shan Huang (Egilea), Min Peng (Egilea), Weiyue Gu (Egilea), Hongmin Zhu (Egilea), Yangcan Ming (Egilea)
• Formatua: Liburua
• Argitaratua: BMC, 2024-01-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: 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...