ArticleFrontiers in genetics2025
Case Report: Whole-exome sequencing revealed a de novo variant in
Article in Frontiers in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: This study aims to characterize the potential genetic etiologies in children with developmental delay through whole-exome sequencing (WES) providing assistance for clinical diagnosis, genetic counseling, and reproductive guidance. Methods: WES was performed on the proband, followed by Sanger sequencing validation of the identified variant in the parents. Results: The proband exhibits global developmental delay, including impaired motor and language development, reduced spontaneous speech, poor coordination, and attention deficits. WES revealed a heterozygous nonsense variant in SETBP1 (c.1630C>T, p.Arg544Ter), which was confirmed as Conclusion: The
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