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<p>The <i>GRIN</i> family is implicated in neurological disorders, such as global developmental delay (GDD) and epilepsy. We reviewed 31 patients with <i>GRIN</i>-related neurodevelopmental disorders at Seoul National University Hospital; all exhibited profound GDD, with 58.1% unable to walk independently and 74.2% unable to speak meaningful words. In a pooled analysis with the GRIN portal data (<a href="https://grin-portal.broadinstitute.org/">https://grin-portal.broadinstitute.org/</a>), patients with missense or in-frame variants had significantly higher rates of profound GDD (74.3% vs. 30.4%, <i>p</i> &lt; 0.001) and movement disorders (69.0% vs. 41.4%, <i>p</i> &lt; 0.01) than those with protein-truncating variants. Furthermore, missense or in-frame variants in the M3 and M4 helices of the transmembrane domain were significantly associated with profound GDD (M3 helix: adjusted odds ratio [aOR] 8.48; 95% confidence interval [CI] 2.79–25.76; M4 helix: aOR 3.14; 95% CI 1.39–7.09) compared to those in other domains. Our findings highlight the importance of detailed variant characterization to inform personalized treatment strategies.</p>

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Exploring gene-phenotype relationships in GRIN-related neurodevelopmental disorders

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年5月15日

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  • Jong Ho Cha,
  • Jee Min Kim,
  • Hee-Jeong Yun,
  • Hyungjin Chin,
  • Hye Jin Kim,
  • Woojoong Kim,
  • Soo Yeon Kim,
  • Byung Chan Lim,
  • Ki Joong Kim,
  • Seungbok Lee,
  • Jong-Hee Chae

摘要

The GRIN family is implicated in neurological disorders, such as global developmental delay (GDD) and epilepsy. We reviewed 31 patients with GRIN-related neurodevelopmental disorders at Seoul National University Hospital; all exhibited profound GDD, with 58.1% unable to walk independently and 74.2% unable to speak meaningful words. In a pooled analysis with the GRIN portal data (https://grin-portal.broadinstitute.org/), patients with missense or in-frame variants had significantly higher rates of profound GDD (74.3% vs. 30.4%, p < 0.001) and movement disorders (69.0% vs. 41.4%, p < 0.01) than those with protein-truncating variants. Furthermore, missense or in-frame variants in the M3 and M4 helices of the transmembrane domain were significantly associated with profound GDD (M3 helix: adjusted odds ratio [aOR] 8.48; 95% confidence interval [CI] 2.79–25.76; M4 helix: aOR 3.14; 95% CI 1.39–7.09) compared to those in other domains. Our findings highlight the importance of detailed variant characterization to inform personalized treatment strategies.