September 16, 2025GenesOpen Access

Novel Biallelic INTS1 Variants May Expand the Phenotypic Spectrum of INTS1-Related Disorders—Case Report and Literature Review

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Discussion

Case report reveals new INTS1 variants associated with neurodevelopmental disorders, highlighting phenotypic diversity.

A patient with novel biallelic INTS1 variants presented with unique features, expanding recognized phenotypic variability.
The identified variants were c.1145G>A and c.1195G>A, both rare, indicating potential for phenotypic diversity in INTS1-related disorders.
Whole-exome sequencing was employed to uncover the genetic basis of neurodevelopmental disorders in this proband.
This case suggests that INTS1-related disorders may exhibit a more varied clinical presentation than previously known.

Wnuk-Kłosińska et al. (2025) studied this question.

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