ArticleMolecular syndromology2026
Gillespie Syndrome: Greek Patient with Novel Mutation and Atypical Presentation - Expansion of the Phenotype and Literature Review.
Article in Molecular syndromology, 2026. 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
Introduction: Gillespie syndrome is characterized by bilateral aniridia, cerebellar hypoplasia leading to ataxia, congenital hypotonia, and variable degrees of intellectual disability. The condition is attributed to pathogenic variants in Case Presentation: Herein, we report the case of a male neonate with generalized hypotonia, and bilateral aniridia, identified during routine newborn eye screening. His abdominal ultrasound revealed a left dysplastic pleiocystic kidney, and his brain magnetic resonance imaging showed mega cisterna magna. In the second month of life, he presented with intestinal malrotation requiring surgical repair. Whole exome sequencing revealed a homozygous deletion of exons 3 and 4 in the Conclusion: Urinary and gastrointestinal issues such as a pleiocystic kidney and malrotation have not previously been associated with Gillespie syndrome. While these findings may be coincidental, they could represent new phenotypic features of the condition.
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