GRIN2B-related neurodevelopmental disorders: genotype-phenotype correlations and therapeutic implications.

ABSTRACT:

Background

Pathogenic variants in GRIN2B are predominantly associated with neurodevelopmental disorders (NDDs). However, our understanding of the genotype-phenotype correlations and the optimal treatment strategies is limited.

Methods

We collected clinical data of seven new patients from the Xiangya Hospital and conducted an extensive literature review. Subsequently, we carried out comparisons of clinical features between patients with gain-of-function (GOF) variants and patients with loss-of-function (LOF) variants, as well as patients with LOF missense variants and LOF truncating variants.

Results

We identified seven patients, five of whom had novel variants (p.Phe554Ser, p.Val821Phe, p.Ile641Thr, p.Asn649Ser, and p.Gly1182Arg), and two of whom had known variants (p

SUBMITTER: Xie C 

PROVIDER: S-EPMC12560415 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature