Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.

Autism Spectrum Disorder / genetics Heterozygote Humans Neurodevelopmental Disorders / genetics RNA-Binding Proteins / genetics Retinitis Pigmentosa / genetics
autism exome sequencing neurodevelopmental disabilities retinitis pigmentosa

Journal

American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741

Informations de publication

Date de publication:
09 2022
Historique:
revised: 22 03 2022
received: 15 03 2022
accepted: 05 04 2022
pubmed: 12 5 2022
medline: 17 8 2022
entrez: 11 5 2022
Statut: ppublish

Résumé

The pre-mRNA-processing factor 8, encoded by PRPF8, is a scaffolding component of a spliceosome complex involved in the removal of introns from mRNA precursors. Previously, heterozygous pathogenic variants in PRPF8 have been associated with autosomal dominant retinitis pigmentosa. More recently, PRPF8 was suggested as a candidate gene for autism spectrum disorder due to the enrichment of sequence variants in this gene in individuals with neurodevelopmental disorders. We report 14 individuals with various forms of neurodevelopmental conditions, found to have heterozygous, predominantly de novo, missense, and loss-of-function variants in PRPF8. These individuals have clinical features that may represent a new neurodevelopmental syndrome.

Identifiants

DOI: 10.1002/ajmg.a.62772 PMID: 35543142
pubmed: 35543142
doi: 10.1002/ajmg.a.62772
doi:

Substances chimiques

PRPF8 protein, human 0
RNA-Binding Proteins 0

Types de publication

Case Reports Research Support, Non-U.S. Gov't Research Support, N.I.H., Extramural

Langues

eng

Sous-ensembles de citation

IM

Pagination

2750-2759

Subventions

Organisme : NHGRI NIH HHS
ID : R01HG009141
Pays : United States
Organisme : National Heart, Lung and Blood Institute
ID : UM1HG008900

Informations de copyright

© 2022 Wiley Periodicals LLC.

Références

Casanova, E. L., Gerstner, Z., Sharp, J. L., Casanova, M. F., & Feltus, F. A. (2018). Widespread genotype-phenotype correlations in intellectual disability. Frontiers in Psychiatry, 9, 1-11. https://doi.org/10.3389/fpsyt.2018.00535
da Silva Montenegro, E. M., Costa, C. S., Campos, G., Scliar, M., de Almeida, T. F., Zachi, E. C., Silva, I. M. W., Chan, A. J. S., Zarrei, M., Lourenço, N. C. V., Yamamoto, G. L., Scherer, S., & Passos-Bueno, M. R. (2020). Meta-analyses support previous and novel autism candidate genes: Outcomes of an unexplored Brazilian cohort. Autism Research, 13(2), 199-206. https://doi.org/10.1002/aur.2238
Fahim, A. T., Daiger, S. P., & Weleber, R. G. (2019). Nonsyndromic Retinitis Pigmentosa Overview. In: M. P. Adam, H. H. Ardinger, R. A. Pagon, et al. (Eds.), GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1417/
Grainger, R. J., & Beggs, J. D. (2005). Prp8 protein: At the heart of the spliceosome. RNA, 11(5), 533-557. https://doi.org/10.1261/rna.2220705
Graziotto, J. J., Farkas, M. H., Bujakowska, K., Deramaudt, B. M., Zhang, Q., Nandrot, E. F., Inglehearn, C. F., Bhattacharya, S. S., & Pierce, E. A. (2011). Three gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration. Investigative Ophthalmology and Visual Science, 52(1), 190-198. https://doi.org/10.1167/iovs.10-5194
Karczewski, K. J., Francioli, L. C., Tiao, G., Cummings, B. B., Alföldi, J., Wang, Q., Collins, R. L., Laricchia, K. M., Ganna, A., Birnbaum, D. P., Gauthier, L. D., Brand, H., Solomonson, M., Watts, N. A., Rhodes, D., Singer-Berk, M., England, E. M., Seaby, E. G., Kosmicki, J. A., … MacArthur, D. G. (2020). The mutational constraint spectrum quantified from variation in 141,456 humans. Nature, 581(7809), 434-443. https://doi.org/10.1038/s41586-020-2308-7
Keightley, M. C., Crowhurst, M. O., Layton, J. E., Beilharz, T., Markmiller, S., Varma, S., Hogan, B. M., De Jong-Curtain, T. A., Heath, J. K., & Lieschke, G. J. (2013). In vivo mutation of pre-mRNA processing factor 8 (Prpf8) affects transcript splicing, cell survival and myeloid differentiation. FEBS Letters, 587(14), 2150-2157. https://doi.org/10.1016/j.febslet.2013.05.030
Landrum, M. J., Lee, J. M., Benson, M., Brown, G. R., Chao, C., Chitipiralla, S., Gu, B., Hart, J., Hoffman, D., Jang, W., Karapetyan, K., Katz, K., Liu, C., Maddipatla, Z., Malheiro, A., McDaniel, K., Ovetsky, M., Riley, G., Zhou, G., … Maglott, D. R. (2018). ClinVar: Improving access to variant interpretations and supporting evidence. Nucleic Acids Research, 46(D1), D1062-D1067. https://doi.org/10.1093/nar/gkx1153
Luo, H. R., Moreau, G. A., Levin, N., & Moore, M. J. (1999). The human Prp8 protein is a component of both U2- and U12-dependent spliceosomes. RNA, 5(7), 893-908. https://doi.org/10.1017/S1355838299990520
Martínez-Gimeno, M., José Gamundi, M., Hernan, I., Maseras, M., Millá, E., Ayuso, C., García-Sandoval, B., Beneyto, M., Vilela, C., Baiget, M., Antiñolo, G., & Carballo, M. (2003). Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa. Investigative Ophthalmology and Visual Science, 44(5), 2171-2177. https://doi.org/10.1167/iovs.02-0871
Maubaret, C. G., Vaclavik, V., Mukhopadhyay, R., Waseem, N. H., Churchill, A., Holder, G. E., Moore, A. T., Bhattacharya, S. S., & Webster, A. R. (2011). Autosomal dominant retinitis pigmentosa with intrafamilial variability and incomplete penetrance in two families carrying mutations in prpf8. Investigative Ophthalmology and Visual Science, 52(13), 9304-9309. https://doi.org/10.1167/iovs.11-8372
McKie, A. B., McHale, J. C., Keen, T. J., Tarttelin, E. E., Goliath, R., Van Lith-Verhoeven, J. J. C., Greenberg, J., Ramesar, R. S., Hoyng, C. B., Cremers, F. P. M., Mackey, D. A., Bhattacharya, S. S., Bird, A. C., Markham, A. F., & Inglehearn, C. F. (2001). Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13). Human Molecular Genetics, 10(15), 1555-1562. https://doi.org/10.1093/hmg/10.15.1555
Micheal, S., Hogewind, B. F., Khan, M. I., Siddiqui, S. N., Zafar, S. N., Akhtar, F., Qamar, R., Hoyng, C. B., & den Hollander, A. I. (2018). Variants in the PRPF8 gene are associated with glaucoma. Molecular Neurobiology, 55(5), 4504-4510. https://doi.org/10.1007/s12035-017-0673-5
Pena, V., Liu, S., Bujnicki, J. M., Lührmann, R., & Wahl, M. C. (2007). Structure of a multipartite protein-protein interaction domain in splicing factor Prp8 and its link to retinitis pigmentosa. Molecular Cell, 25(4), 615-624. https://doi.org/10.1016/j.molcel.2007.01.023
Retterer, K., Juusola, J., Cho, M. T., Vitazka, P., Millan, F., Gibellini, F., Vertino-Bell, A., Smaoui, N., Neidich, J., Monaghan, K. G., McKnight, D., Bai, R., Suchy, S., Friedman, B., Tahiliani, J., Pineda-Alvarez, D., Richard, G., Brandt, T., Haverfield, E., … Bale, S. (2016). Clinical application of whole-exome sequencing across clinical indications. Genetics in Medicine, 18(7), 696-704. https://doi.org/10.1038/gim.2015.148
Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., Voelkerding, K., & Rehm, H. L. (2015). 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. Genetics in Medicine, 17(5), 405-424. https://doi.org/10.1038/gim.2015.30
Růžičková, Š., & Staněk, D. (2017). Mutations in spliceosomal proteins and retina degeneration. RNA Biology, 14(5), 544-552. https://doi.org/10.1080/15476286.2016.1191735
Sobreira, N., Valle, D., & Hamosh, A. (2016). GeneMatcher: A matching tool for connecting investigators with an interest in the same gene. Human Mutation, 36(10), 928-930. https://doi.org/10.1002/humu.22844.GeneMatcher
Srivastava, S., Love-Nichols, J. A., Dies, K. A., Ledbetter, D. H., Martin, C. L., Chung, W. K., Firth, H. V., Frazier, T., Hansen, R. L., Prock, L., Brunner, H., Hoang, N., Scherer, S. W., Sahin, M., & Miller, D. T. (2019). Meta-analysis and multidisciplinary consensus statement: Exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. Genetics in Medicine, 21(11), 2413-2421. https://doi.org/10.1038/s41436-019-0554-6
Stevens, S. W., & Abelson, J. (1999). Purification of the yeast U4/U6·U5 small nuclear ribonucleoprotein particle and identification of its proteins. Proceedings of the National Academy of Sciences of the United States of America, 96(13), 7226-7231. https://doi.org/10.1073/pnas.96.13.7226
Teigelkamp, S., Whittaker, E., & Beggs, J. D. (1995). Interaction of the yeast splicing factor PRP8 with substrate RNA during both steps of splicing. Nucleic Acids Research, 23(3), 320-326. https://doi.org/10.1093/nar/23.3.320
Uhlén, M., Fagerberg, L., Hallström, B. M., Lindskog, C., Oksvold, P., Mardinoglu, A., Sivertsson, Å., Kampf, C., Sjöstedt, E., Asplund, A., Olsson, I., Edlund, K., Lundberg, E., Navani, S., Szigyarto, C. A.-K., Odeberg, J., Djureinovic, D., Takanen, J. O., Hober, S., … Pontén, F. (2015). Uhlen protein atlas citation.pdf. http://www.proteinatlas.org
Van Lith-Verhoeven, J. J. C., Van der Velde-Visser, S. D., Sohocki, M. M., Deutman, A. F., Brink, H. M. A., Cremers, F. P. M., & Hoyng, C. B. (2002). Clinical characterization, linkage analysis, and PRPC8 mutation analysis of a family with autosomal dominant retinitis pigmentosa type 13 (RP13). Ophthalmic Genetics, 23(1), 1-12. https://doi.org/10.1076/opge.23.1.1.2206
Vissers, L. E. L. M., Van Nimwegen, K. J. M., Schieving, J. H., Kamsteeg, E. J., Kleefstra, T., Yntema, H. G., Pfundt, R., Van Der Wilt, G. J., Krabbenborg, L., Brunner, H. G., Van Der Burg, S., Grutters, J., Veltman, J. A., & Willemsen, M. A. A. P. (2017). A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology. Genetics in Medicine, 19(9), 1055-1063. https://doi.org/10.1038/gim.2017.1
Wheway, G., Nazlamova, L., Meshad, N., Hunt, S., Jackson, N., & Churchill, A. (2019). A combined in silico, in vitro and clinical approach to characterize novel pathogenic missense variants in PRPF31 in retinitis pigmentosa. Frontiers in Genetics, 10, 248. https://doi.org/10.3389/fgene.2019.00248

Auteurs

Lauren O'Grady (L)

Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, Massachusetts, USA.
MGH Institute of Health Professions, Charlestown, Massachusetts, USA.
ORCID: 0000-0001-6721-4191

Samantha A Schrier Vergano (SA)

Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughter, Norfolk, Virginia, USA.
Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia, USA.
ORCID: 0000-0001-9194-0644

Trevor L Hoffman (TL)

Department of Genetics, Southern California Kaiser Permanente Medical Group, Anaheim, California, USA.

Dean Sarco (D)

Department of Neurology, Kaiser Permanente-Los Angeles Medical Center, Los Angeles, California, USA.

Sara Cherny (S)

Division of Cardiology, Ann & Robert H. Lurie Children's Hospital, Chicago, Illinois, USA.

Emily Bryant (E)

Division of Neurology, Ann & Robert H. Lurie Children's Hospital, Chicago, Illinois, USA.
ORCID: 0000-0001-5393-6687

Laura Schultz-Rogers (L)

Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

Wendy K Chung (WK)

Department of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, New York, USA.

Stephanie Sacharow (S)

Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.
Harvard Medical School, Boston, Massachusetts, USA.

Ladonna L Immken (LL)

Department of Clinical & Metabolic Genetics, Dell Children's Medical Group, Austin, Texas, USA.

Susan Holder (S)

Department of Clinical & Metabolic Genetics, Dell Children's Medical Group, Austin, Texas, USA.

Rebecca R Blackwell (RR)

Department of Clinical & Metabolic Genetics, Dell Children's Medical Group, Austin, Texas, USA.

Catherine Buchanan (C)

Department of Clinical & Metabolic Genetics, Dell Children's Medical Group, Austin, Texas, USA.

Roman Yusupov (R)

Division of Pediatric Genetics, Joe DiMaggio Children's Hospital, Hollywood, Florida, USA.

François Lecoquierre (F)

Department of Genetics and Reference Center for Developmental Disorders, FHU G4 Génomique, Normandie University, UNIROUEN, Inserm U1245, CHU Rouen, Rouen, France.
ORCID: 0000-0002-9110-1856

Anne-Marie Guerrot (AM)

Department of Genetics and Reference Center for Developmental Disorders, FHU G4 Génomique, Normandie University, UNIROUEN, Inserm U1245, CHU Rouen, Rouen, France.

Lance Rodan (L)

Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.
Harvard Medical School, Boston, Massachusetts, USA.
ORCID: 0000-0002-2392-6688

Bert B A de Vries (BBA)

Department of Human Genetics, Radboud University Medical Center and Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands.
ORCID: 0000-0002-0000-2917

Erik Jan Kamsteeg (EJ)

Department of Human Genetics, Radboud University Medical Center and Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands.

Fernando Santos Simarro (F)

Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain.
ORCID: 0000-0002-1201-9118

Maria Palomares-Bralo (M)

Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain.
ORCID: 0000-0002-2727-7654

Natasha Brown (N)

Department of Paediatrics, The University of Melbourne, Parkville, Victoria, Australia.
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.

Lynn Pais (L)

Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.

Alejandro Ferrer (A)

Center for Individualized Medicine, Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA.

Eric W Klee (EW)

Center for Individualized Medicine, Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA.

Dusica Babovic-Vuksanovic (D)

Center for Individualized Medicine, Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA.

Lindsay Rhodes (L)

GeneDx, Inc., Gaithersburg, Maryland, USA.

Richard Person (R)

GeneDx, Inc., Gaithersburg, Maryland, USA.

Amber Begtrup (A)

GeneDx, Inc., Gaithersburg, Maryland, USA.

Jennifer Keller-Ramey (J)

GeneDx, Inc., Gaithersburg, Maryland, USA.

Teresa Santiago-Sim (T)

GeneDx, Inc., Gaithersburg, Maryland, USA.

Rhonda E Schnur (RE)

GeneDx, Inc., Gaithersburg, Maryland, USA.

David A Sweetser (DA)

Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, Massachusetts, USA.
ORCID: 0000-0002-1621-3284

Nina B Gold (NB)

Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, Massachusetts, USA.

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Classifications MeSH

questionsmedicales.fr › Troubles mentaux › Troubles du développement neurologique › Troubles généralisés du développement de l'enfant › Trouble du spectre autistique › Heterozygous variants in PRPF8 are associated...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Hétérozygote › Heterozygous variants in PRPF8 are associated...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Heterozygous variants in PRPF8 are associated...
questionsmedicales.fr › Troubles mentaux › Troubles du développement neurologique › Heterozygous variants in PRPF8 are associated...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Nucléoprotéines › Protéines de liaison à l'ARN › Heterozygous variants in PRPF8 are associated...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies héréditaires de l'oeil › Rétinite pigmentaire › Heterozygous variants in PRPF8 are associated...