PUS3‐related disorder: Report of a novel patient and delineation of the phenotypic spectrum. Issue 2 (29th October 2021)

• Record Type: Journal Article
• Authors: Borghesi, Alessandro; Plumari, Massimo; Rossi, Elena; Viganò, Claudia; Cerbo, Rosa Maria; Codazzi, Alessia Claudia; Valente, Enza Maria; Gana, Simone
• Is Part Of: American journal of medical genetics. Volume 188:Issue 2(2022)
• Page Start: 635
• Page End: 641
• Publication Date: 2021-10-29
• Subjects: congenital malformation -- exome sequencing -- PUS3 -- tRNA; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.62547
• Languages: English
• ISSNs: 1552-4825

Abstract

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.