ArticleAmerican journal of human genetics2013
SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant.
Article in American journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 56 papers.
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Who cites it
56 citing papers in PubMed, 95 citations in OpenAlex.
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- De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.Nature communications · 2026Article
- Review
- Partial trisomy of 1q42.1 and 8q24.3 deletion: a family history.Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo · 2026Article
- The Function of Poly (U) Binding Splicing Factor 60 (PUF60) in Disease Regulation.Anti-cancer agents in medicinal chemistry · 2026Review
- Vitamin BResearch square · 2025Article
- A Prenatal Diagnosis of Verheij Syndrome in a Fetus Harboring a de novoClinical case reports · 2025Article
- Modeling craniofacial spliceosomopathies: a pathway toward deciphering disease mechanisms.Frontiers in cell and developmental biology · 2025Review
- Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature.European journal of human genetics : EJHG · 2024Review
- Novel Genetic and Phenotypic Expansion in AmelioratedInternational journal of molecular sciences · 2024Article
- Targeting PUF60 prevents tumor progression by retarding mRNA decay of oxidative phosphorylation in ovarian cancer.Cellular oncology (Dordrecht, Netherlands) · 2024Article
- RNA binding proteins in cardiovascular development and disease.Current topics in developmental biology · 2024Article
- The Link of mRNA and rRNA Transcription by PUF60/FIR through TFIIH/P62 as a Novel Therapeutic Target for Cancer.International journal of molecular sciences · 2023Article
- PUF60 promotes cell cycle and lung cancer progression by regulating alternative splicing of CDC25C.Cell reports · 2023Article
- Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores.Molecular genetics & genomic medicine · 2023Article
- Decreased spliceosome fidelity and egl-8 intron retention inhibit mTORC1 signaling to promote longevity.Nature aging · 2022Article
- Systematic exploration of dynamic splicing networks reveals conserved multistage regulators of neurogenesis.Molecular cell · 2022Article
- CNest: A novel copy number association discovery method uncovers 862 new associations from 200,629 whole-exome sequence datasets in the UK Biobank.Cell genomics · 2022Article
Corrections and comments
- Erratum issued
Authors and funding
17 authors at 7 institutions in 4 countries.
Funding
Abstract
Copy-number variants (CNVs) represent a significant interpretative challenge, given that each CNV typically affects the dosage of multiple genes. Here we report on five individuals with coloboma, microcephaly, developmental delay, short stature, and craniofacial, cardiac, and renal defects who harbor overlapping microdeletions on 8q24.3. Fine mapping localized a commonly deleted 78 kb region that contains three genes: SCRIB, NRBP2, and PUF60. In vivo dissection of the CNV showed discrete contributions of the planar cell polarity effector SCRIB and the splicing factor PUF60 to the syndromic phenotype, and the combinatorial suppression of both genes exacerbated some, but not all, phenotypic components. Consistent with these findings, we identified an individual with microcephaly, short stature, intellectual disability, and heart defects with a de novo c.505C>T variant leading to a p.His169Tyr change in PUF60. Functional testing of this allele in vivo and in vitro showed that the mutation perturbs the relative dosage of two PUF60 isoforms and, subsequently, the splicing efficiency of downstream PUF60 targets. These data inform the functions of two genes not associated previously with human genetic disease and demonstrate how CNVs can exhibit complex genetic architecture, with the phenotype being the amalgam of both discrete dosage dysfunction of single transcripts and also of binary genetic interactions.
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