LEO1 haploinsufficiency is associated with developmental delays and autism spectrum disorder

Francette AM, Tripplehorn SA, Arndt KM. The Paf1 complex: a keystone of nuclear regulation operating at the interface of transcription and chromatin. J Mol Biol. 2021;433:166979.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Jaehning JA. The Paf1 complex: platform or player in RNA polymerase II transcription?. Biochim Biophys Acta. 2010;1799:379–88.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Chen F, Liu B, Zhou H, Long J. The Paf1 complex is required for RNA polymerase II removal in response to DNA damage. Proc Natl Acad Sci USA. 2022;119:e2207332119.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Oya E, Durand-Dubief M, Cohen A, Maksimov V, Schurra C, Nakayama JI, et al. Leo1 is essential for the dynamic regulation of heterochromatin and gene expression during cellular quiescence. Epigenetics Chrom. 2019;12:45.

Article  Google Scholar 

Nguyen CT, Langenbacher A, Hsieh M, Chen JN. The PAF1 complex component Leo1 is essential for cardiac and neural crest development in zebrafish. Dev Biol. 2010;341:167–75.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Groza T, Gomez FL, Mashhadi HH, Muñoz-Fuentes V, Gunes O, Wilson R, et al. The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease. Nucleic Acids Res. 2023;51:D1038–d45.

Article  PubMed  CAS  Google Scholar 

McRae JF, Clayton S, Fitzgerald TW, Kaplanis J, Prigmore E, Rajan D, et al. Prevalence and architecture of de novo mutations in developmental disorders. Nature. 2017;542:433–38.

Article  CAS  Google Scholar 

De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Cicek AE, et al. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature. 2014;515:209–15.

Article  PubMed  PubMed Central  Google Scholar 

Brandler WM, Antaki D, Gujral M, Kleiber ML, Whitney J, Maile MS, et al. Paternally inherited cis-regulatory structural variants are associated with autism. Science. 2018;360:327–31.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Satterstrom FK, Kosmicki JA, Wang J, Breen MS, De Rubeis S, An JY, et al. Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism. Cell. 2020;180:568–84.e23.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Meuwissen M, Verstraeten A, Ranza E, Iwaszkiewicz J, Bastiaansen M, Mateiu L, et al. Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder. Genet Med. 2022;24:1583–91.

Article  PubMed  CAS  Google Scholar 

Wang T, Hoekzema K, Vecchio D, Wu H, Sulovari A, Coe BP, et al. Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders. Nat Commun. 2020;11:4932.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Smal N, Majdoub F, Janssens K, Reyniers E, Meuwissen MEC, Ceulemans B, et al. Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes. Eur J Hum Genet. 2024;32:1378–86.

Article  PubMed  Google Scholar 

Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alföldi J, Wang Q, et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020;581:434–43.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–23.

Article  PubMed  PubMed Central  Google Scholar 

Akter H, Rahman MM, Mim RA, Rahaman A, Eshaque TB, Hossain SA, et al. Genomic insights into Rett syndrome-like features in Bangladeshi participants. Genet Med Open. 2025;3:103438.

Article  PubMed  PubMed Central  Google Scholar 

Comments (0)

No login
gif