PDF(Pubmed)
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 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.
摘要：
NUDT2是维持四磷酸二腺苷(Ap4A)细胞内水平的重要酶。NUDT2中功能变体的双等位基因缺失最近被报道为智力障碍（ID）的罕见原因。在这里，我们描述一个有身份证的中国女孩，注意缺陷多动障碍（ADHD），以及行走姿势异常和爬楼梯困难的运动延迟，具有复合杂合变体c.34C>T（p。R12*）和c.194T>G（p。I65R）在NUDT2中。纯合变体c.34C>T（p。R12*）或c.186del（p。NUDT2中的A63Qfs*3)以前曾被报告为原因ID。这是第一位由于NUDT2中的复合杂合变体而患有ID的患者,并且p.I65R是新的错义变体。这项研究丰富了NUDT2相关ID的基因型和表型，并支持NUDT2的关键发育参与。
