Scholarlink

Background <p>Autism spectrum disorder (ASD) is a heterogeneous condition with complex genetic and environmental etiologies. Diagnostic yield can be low, but in certain cohorts the likelihood of a positive genetic diagnosis increases.</p> Case presentation <p>We report a pediatric patient with global development delay with no regression, ASD, behavioral issues, and macrocephaly, carrying a novel <i>de novo</i> heterozygous loss-of-function variant in <i>WDFY3</i>.</p> Conclusions <p><i>WDFY3</i> plays a key role in neurodevelopment and cerebral size regulation. This case adds to the emerging evidence implicating monoallelic <i>WDFY3</i> variants in ASD and underscoring the diagnostic value of genetic testing in complex neurodevelopmental presentations.</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

Novel variant in WDFY3 in a girl with autism spectrum disorder, macrocephaly and no regression

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年2月28日

查看全文
  • Teresa Tavares,
  • Inês Carrilho,
  • Celia Azevedo Soares

摘要

Background

Autism spectrum disorder (ASD) is a heterogeneous condition with complex genetic and environmental etiologies. Diagnostic yield can be low, but in certain cohorts the likelihood of a positive genetic diagnosis increases.

Case presentation

We report a pediatric patient with global development delay with no regression, ASD, behavioral issues, and macrocephaly, carrying a novel de novo heterozygous loss-of-function variant in WDFY3.

Conclusions

WDFY3 plays a key role in neurodevelopment and cerebral size regulation. This case adds to the emerging evidence implicating monoallelic WDFY3 variants in ASD and underscoring the diagnostic value of genetic testing in complex neurodevelopmental presentations.