Severe trichothiodystrophy and cardiac malformation in a newborn carrying a novel GTF2H5 homozygous truncating variant.

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.© 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Citation

Ugo Sorrentino, Caterina Agosto, Franca Benini, Cinzia Bertolin, Matteo Cassina, Luca Bonadies, Francesca Caroppo, Anna Belloni Fortina, Leonardo Salviati. Severe trichothiodystrophy and cardiac malformation in a newborn carrying a novel GTF2H5 homozygous truncating variant. Clinical genetics. 2023 Jun 25

PMID: 37356817

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