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Article

Compound heterozygous mutations of NTNG2 cause intellectual disability via inhibition of the CaMKII signaling.

Journal of genetics and genomics = Yi chuan xue bao - 1 Nov 2024

Chen Yaoting, Chen Jiang, Liang Lili, Dai Weiqian, Li Nan, Dong Shuangshuang, Zhan Yongkun, Chen Guiquan, Yu Yongguo

Abstract excerpt

Netrin-G2 is a membrane-anchored protein known to play critical roles in neuronal circuit development and synaptic organization. In this study, we identify compound heterozygous mutations of c.547delC, p.(Arg183Alafs∗186) and c.605G>A, p.(Trp202X) in NTNG2 causing a syndrome exhibiting developmental delay, intellectual disability, hypotonia, and facial dysmorphism. To elucidate the underlying cellular and...

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Source

Identifiers

PMID: 39151821
DOI: 10.1016/j.jgg.2024.08.001

Genes

NTNG2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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