Article
Severe trichothiodystrophy and cardiac malformation in a newborn carrying a novel GTF2H5 homozygous truncating variant.
Clinical genetics - 1 Nov 2023
Sorrentino Ugo, Agosto Caterina, Benini Franca, Bertolin Cinzia, Cassina Matteo, Bonadies Luca, Caroppo Francesca, Fortina Anna Belloni, Salviati Leonardo
Abstract excerpt
We report a newborn patient with trichothiodystrophy-3 (TTD3) caused by a novel homozygous variant in the GTF2H5 gene. His severe phenotype included congenital ichthyosis, complex posterior cranial fossa anomaly, life-threatening infections, bilateral cryptorchidism, and, notably, a complex cardiac malformation, which is unprecedented in TTD3 patients.
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