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Case Reports
. 2022 Feb;188(2):635-641.
doi: 10.1002/ajmg.a.62547. Epub 2021 Oct 29.

PUS3-related disorder: Report of a novel patient and delineation of the phenotypic spectrum

Alessandro Borghesi  1   2 , Massimo Plumari  3 , Elena Rossi  3   4 , Claudia Viganò  1 , Rosa Maria Cerbo  1 , Alessia Claudia Codazzi  5 , Enza Maria Valente  3   4 , Simone Gana  3
Affiliations
Case Reports

PUS3-related disorder: Report of a novel patient and delineation of the phenotypic spectrum

Alessandro Borghesi et al. Am J Med Genet A. 2022 Feb.

Abstract

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.

Keywords: PUS3; congenital malformation; exome sequencing; tRNA.

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References

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