PUS3 ‐related disorder: Report of a novel patient and delineation of the phenotypic spectrum
Autor: | Massimo Plumari, Rosa Maria Cerbo, Enza Maria Valente, Simone Gana, Alessia Claudia Codazzi, Elena Rossi, Alessandro Borghesi, Claudia Viganò |
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Rok vydání: | 2021 |
Předmět: | |
Zdroj: | American Journal of Medical Genetics Part A. 188:635-641 |
ISSN: | 1552-4833 1552-4825 |
DOI: | 10.1002/ajmg.a.62547 |
Popis: | PUS3 encodes the pseudouridylate synthase 3, an enzyme catalyzing the formation of tRNA pseudouridine, which plays a critical role in tRNA structure, function, and stability. Biallelic pathogenic variants of PUS3 have been previously associated with severe intellectual disability, microcephaly, epilepsy, and short stature. We identified a novel homozygous PUS3 frameshift variant in a child with facial dysmorphisms, growth failure, microcephaly, retinal dystrophy, cerebellar hypoplasia, congenital heart defect, and right kidney hypoplasia. This patient further expands the phenotypic spectrum of PUS3-related disorders to include a more severe syndromic presentation. |
Databáze: | OpenAIRE |
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