1. Severe trichothiodystrophy and cardiac malformation in a newborn carrying a novel GTF2H5 homozygous truncating variant.
- Author
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Sorrentino, Ugo, Agosto, Caterina, Benini, Franca, Bertolin, Cinzia, Cassina, Matteo, Bonadies, Luca, Caroppo, Francesca, Fortina, Anna Belloni, and Salviati, Leonardo
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NEWBORN infants , *HUMAN abnormalities , *ARNOLD-Chiari deformity , *AGENESIS of corpus callosum , *GENETIC disorders , *ICHTHYOSIS , *GENETIC variation - Abstract
This article reports on a case study of a newborn patient with trichothiodystrophy-3 (TTD3) caused by a novel homozygous variant in the GTF2H5 gene. The patient exhibited a severe phenotype, including congenital ichthyosis, complex cranial anomalies, life-threatening infections, and a complex cardiac malformation, which is unprecedented in TTD3 patients. Trichothiodystrophies are rare genetic disorders characterized by ichthyosis, skin photosensitivity, brittle hair, susceptibility to infections, intellectual impairment, short stature, and decreased fertility. The GTF2H5 gene is crucial for nucleotide excision repair activity and defects in this gene have been associated with TTD3. This case expands our understanding of the clinical and mutational landscape of GTF2H5 and highlights its potential for causing severe multisystemic damage. [Extracted from the article]
- Published
- 2023
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