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Article

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

BMC pediatrics - 19 Jan 2024

Bi Bo, Chen Xiaohong, Huang Shan, Peng Min, Gu Weiyue, Zhu Hongmin, Ming Yangcan

Abstract excerpt

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...

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Identifiers

PMID: 38243213
DOI: 10.1186/s12887-024-04542-3
PMCID: PMC10797960

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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