@Article{Jędrzejowska2026,
journal="Folia Neuropathologica",
issn="1641-4640",
year="2026",
title="Floppy baby syndrome as the first presentation of HADDTS associated with CTBP1 mutation",
abstract="                     The  CtBP1 protein is a transcriptional regulator that interacts with  chromatin-modifying enzymes and modulates gene expression in various  cellular pathways. The dominant negative de novo molecular  variant c.1024C\>T, p.Arg342Trp in the CTBP1 gene is associated  with hypotonia, ataxia, developmental delay, and tooth enamel defect  syndrome (HADDTS). Here we present a male patient with  a recurrent hotspot mutation in the CTBP1 gene and a phenotype  consistent with HADDTS. The patient presented with global  developmental delay, floppy infant syndrome, ataxia, intellectual  disability with speech disorder, facial dysmorphia, enamel defect,  constipation, and cerebellar atrophy on brain imaging. This is the  18                 th                   reported case of this ultra-rare disorder, and the first patient of  Polish origin. Diagnosing neurodevelopmental disorders remains  challenging; however, modern large-scale genetic tests and  a diagnostic approach from genotype to phenotype enable the  diagnosis of an increasing number of patients with rare diseases that  present non-specifically but have a severe course.                ",
author="Jędrzejowska, Maria
and Jurkiewicz, Elzbieta
and Gos, Monika
and Rokicki, Dariusz
and Madej-Pilarczyk, Agnieszka",
doi="10.5114/fn.2026.162176",
url="http://dx.doi.org/10.5114/fn.2026.162176"
}