Phenotypic variability in Arboleda-Tham syndrome: a report of a polish patient with a pathogenic KAT6A variant.
Joanna Rokosz-Mierzwa, Katarzyna Reszka, Łucja Walczak et al.
✦ AI-curated · Sources linked
Case in brief
A 6-year-old boy born to healthy parents had global developmental delay, with milestones reached substantially later than expected. Diagnostic evaluation began at 18 months. Genetic testing identified a de novo pathogenic nonsense variant in KAT6A, c.3055C>T (p.Arg1019Ter), supporting a diagnosis of Arboleda-Tham syndrome. The report documents his clinical features over several years and notes that the full clinical picture of the syndrome was not present.
What made this case unusual
The diagnosis was established by genomic sequencing despite an incomplete clinical presentation, illustrating phenotypic variability in KAT6A-related Arboleda-Tham syndrome.
Diagnostic / clinical pearl
Consider genomic sequencing when developmental delay raises suspicion for Arboleda-Tham syndrome, even if the patient does not show its full clinical picture.