<i>PUS3</i>
            mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy

Paiva, Anderson Rodrigues Brandão de; Lynch, David S.; Melo, Uirá Souto; Lucato, Leandro Tavares; Freua, Fernando; Assis, Bruno Della Ripa de; Barcelos, Isabella Peixoto de; Listik, Clarice; Santos, Diego de Castro Dos; Macedo‐Souza, Lúcia Inês; Houlden, Henry; Kok, Fernando

doi:10.1212/nxg.0000000000000306

Cited by 14 publications

(11 citation statements)

References 7 publications

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“…To date, pathogenic variants in PUS3 were reported in 11 patients from 7 families, including the child presented here (Table 1) (Abdelrahman et al, 2018; Alfares et al, 2017; de Paiva et al, 2019; Fang et al, 2020; Froukh et al, 2020; Shaheen et al, 2016). In addition, compound heterozygous variants in PUS3 were found in four fetuses of a same family with polyhydramnios, heart malformation, and brain malformations (Guo et al, 2020).…”

Section: Discussionmentioning

confidence: 92%

“…(4) failure to thrive and/or short stature. Additional findings such as muscle hypotonia and coarse face with gray sclerae have been reported in about half the patients (Abdelrahman et al, 2018;Alfares et al, 2017;de Paiva et al, 2019;Fang et al, 2020;Froukh et al, 2020). In addition, compound heterozygous variants in PUS3 were found in four severely malformed fetuses of a same family (Guo et al, 2020).…”

Section: Introductionmentioning

confidence: 85%

“…Since then, biallelic pathogenic variants of PUS3 have been reported in further seven patients belonging to five families, sharing a core of recurrent, although nonspecific, features: (1) severe GDD/ID; (2) microcephaly; (3) epilepsy; (4) failure to thrive and/or short stature. Additional findings such as muscle hypotonia and coarse face with gray sclerae have been reported in about half the patients (Abdelrahman et al, 2018; Alfares et al, 2017; de Paiva et al, 2019; Fang et al, 2020; Froukh et al, 2020). In addition, compound heterozygous variants in PUS3 were found in four severely malformed fetuses of a same family (Guo et al, 2020).…”

Section: Introductionmentioning

confidence: 91%

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

Borghesi

Plumari²,

Rossi

et al. 2021

American J of Med Genetics Pt A

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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.

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Section: Discussionmentioning

confidence: 92%

Section: Introductionmentioning

confidence: 85%

Section: Introductionmentioning

confidence: 91%

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

Borghesi

Plumari²,

Rossi

et al. 2021

American J of Med Genetics Pt A

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“…Many of these modifications are essential for health. For instance, mutations in the genes of the enzymes responsible for 2-thiolation of xm 5 s 2 U derivatives, Gm34, or Ψ39 result in microcephaly and/or intellectual disability and/ or nephropathy [30][31][32].…”

Section: Regulation Of Trna Local Structurementioning

confidence: 99%

Human transfer RNA modopathies: diseases caused by aberrations in transfer RNA modifications

Chujo

Tomizawa

2021

The FEBS Journal

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“…The child suffered from ID, microcephaly, hypotonia, seizures, and vision and hearing loss [56] . Furthermore, two compound heterozygous mutations were reported in a Brazilian and a Chinese family [198,199] . Although all reported patients presented with additional features, ID was the only consistent characteristic.…”

Section: Pus1 Pus3 and Pus7mentioning

confidence: 99%

Role of transfer RNA modification and aminoacylation in the etiology of congenital intellectual disability

Franz¹,

Hagenau²,

Jensen³

et al. 2020

JTGG

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Transfer RNA (tRNA) modification and aminoacylation are post-transcriptional processes that play a crucial role in the function of tRNA and thus represent critical steps in gene expression. Knowledge of the exact processes and effects of the defects in various tRNAs remains incomplete, but a rapidly increasing number of publications over the last decade has shown a growing amount of evidence as to the importance of tRNAs for normal human development, including brain formation and the development and maintenance of higher cognitive functions as well. In this review, we present a synopsis of the literature focusing on tRNA-modifying enzymes and aminoacyl-tRNA synthetases (ARSs) that have been found to be involved in the etiology of hereditary forms of intellectual disability. Our overview shows several parallels but also differences in the symptomatic spectrum observed in individuals affected by intellectual disability caused by mutations in tRNA modifier and/or ARS genes. This observation suggests that tRNAs seem to assume diverse roles in a variety of cellular processes possibly even beyond translation and that not only the abundance but also the modification and aminoacylation levels of tRNAs contribute to cell functions in ways that still remain to be understood.

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PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy

Cited by 14 publications

References 7 publications

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

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

Human transfer RNA modopathies: diseases caused by aberrations in transfer RNA modifications

Role of transfer RNA modification and aminoacylation in the etiology of congenital intellectual disability

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