Scholarlink

Introduction <p>Autism has been lately regarded as a synaptopathy due to growing genetic and experimental evidence that suggests associated genes to converge at the synaptic pathway. Several genes implicated in autism encode synaptic adhesion molecules and contain leucine rich repeats suggesting their role in synapse formation. This case report highlights <i>LRFN1</i> gene as a potentially novel candidate associated with autism. The LRFN1 protein is a synaptic adhesion like molecule that contains leucine rich repeats. It has direct interaction with the post-synaptic density 95 protein, a predominant protein involved in synaptic function which has previously been associated with autism.</p> Case presentation <p>A two year and three months old male proband diagnosed with non-syndromic autism spectrum disorder as per the Diagnostic and Statistical Manual of Mental Disorders (Fifth Edition) criteria was evaluated for a genetic aetiology. Karyotyping and chromosomal microarray did not reveal any quantitative genomic imbalances. Whole exome sequencing revealed a heterozygous variant c.176T &gt; C (p.Val59Ala) in exon 1 of the <i>LRFN1</i> gene. Segregation analysis in parents by Sanger sequencing showed the variant to be <i>de novo</i> in origin. Together with <i>in silico</i> analyses, the variant as well as the gene is likely to have a damaging effect leading to autism phenotype in the present case.</p> Conclusion <p>This case reports <i>LRFN1</i> gene as a potential novel candidate that could be associated with ASD through the synaptic pathway. Possible modes of action have been hypothesized taking into account its direct interaction with the post-synaptic density 95 protein and associated protein complex.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Identification of LRFN1 as a novel synaptopathy gene in a child with autism

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年7月28日

查看全文
  • Jhanvi Shah,
  • Deepika Jain,
  • Jayesh Sheth,
  • Frenny Sheth,
  • Gayatri Dave,
  • Harsh Sheth

摘要

Introduction

Autism has been lately regarded as a synaptopathy due to growing genetic and experimental evidence that suggests associated genes to converge at the synaptic pathway. Several genes implicated in autism encode synaptic adhesion molecules and contain leucine rich repeats suggesting their role in synapse formation. This case report highlights LRFN1 gene as a potentially novel candidate associated with autism. The LRFN1 protein is a synaptic adhesion like molecule that contains leucine rich repeats. It has direct interaction with the post-synaptic density 95 protein, a predominant protein involved in synaptic function which has previously been associated with autism.

Case presentation

A two year and three months old male proband diagnosed with non-syndromic autism spectrum disorder as per the Diagnostic and Statistical Manual of Mental Disorders (Fifth Edition) criteria was evaluated for a genetic aetiology. Karyotyping and chromosomal microarray did not reveal any quantitative genomic imbalances. Whole exome sequencing revealed a heterozygous variant c.176T > C (p.Val59Ala) in exon 1 of the LRFN1 gene. Segregation analysis in parents by Sanger sequencing showed the variant to be de novo in origin. Together with in silico analyses, the variant as well as the gene is likely to have a damaging effect leading to autism phenotype in the present case.

Conclusion

This case reports LRFN1 gene as a potential novel candidate that could be associated with ASD through the synaptic pathway. Possible modes of action have been hypothesized taking into account its direct interaction with the post-synaptic density 95 protein and associated protein complex.