Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome
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In this study, we used deletions at 22q13, which represent a substantial source of human pathology (Phelan/McDermid syndrome), as a model for investigating the molecular mechanisms of terminal deletions that are currently poorly understood. We characterized at the molecular level the genomic rearrangement in 44 unrelated patients with 22q13 monosomy resulting from simple terminal deletions (72%), ring chromosomes (14%), and unbalanced translocations (7%). We also discovered interstitial deletions between 17-74 kb in 9% of the patients. Haploinsufficiency of the SHANK3 gene, confirmed in all rearrangements, is very likely the cause of the major neurological features associated with PMS. SHANK3 mutations can also result in language and/or social interaction disabilities. We determined the breakpoint junctions in 29 cases, providing a realistic snapshot of the variety of mechanisms driving non-recurrent deletion and repair at chromosome ends. De novo telomere synthesis and telomere capture are used to repair terminal deletions; non-homologous end-joining or microhomology-mediated break-induced replication is probably involved in ring 22 formation and translocations; non-homologous end-joining and fork stalling and template switching prevail in cases with interstitial 22q13.3. For the first time, we also demonstrated that distinct stabilizing events of the same terminal deletion can occur in different early embryonic cells, proving that terminal deletions can be repaired by multistep healing events and supporting the recent hypothesis that rare pathogenic germline rearrangements may have mitotic origin. Finally, the progressive clinical deterioration observed throughout the longitudinal medical history of three subjects over forty years supports the hypothesis of a role for SHANK3 haploinsufficiency in neurological deterioration, in addition to its involvement in the neurobehavioral phenotype of PMS.
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In other cases with almost identical small microdeletions including SHANK3, neurobehavioral phenotypes were quite variable.
“Similarly, in other cases with almost identical small microdeletions (<100 kb) including SHANK3, neurobehavioral phenotypes were quite variable (Boccuto et al., 2013; Bonaglia et al., 2011; Dhar et al., 2010).”
From Modeling Autism by SHANK Gene Mutations in Mice (2013) · cites this paper as Bonaglia et al., 2011
For point mutations such as missense mutations and small intragenic deletions in SHANK2 and SHANK3, the pathogenic mechanism is less clear.
“By comparison, for point mutations such as missense mutation and small intragenic deletions identified in SHANK2 and SHANK3, the pathogenic mechanism is less clear (Bonaglia et al., 2011; Durand et al., 2011; Moessner et al., 2007).”
From Modeling Autism by SHANK Gene Mutations in Mice (2013) · cites this paper as Bonaglia et al., 2011
Δex4-9 and Δex4-7 mouse mutations are closest to patients with intragenic exon 1-9 deletion and splice mutation of intron 5 in SHANK3.
“The Δex4-9 (Bozdagi et al., 2010) and Δex4-7 mutations in mouse (Peca et al., 2011) are closest to patients with intragenic exon 1-9 deletion and splice mutation of intron 5 in SHANK3 (Bonaglia et al., 2011; Hamdan et al., 2011)”
From Modeling Autism by SHANK Gene Mutations in Mice (2013) · cites this paper as Bonaglia et al., 2011
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- Authors
- Bonaglia, M. C., Giorda, R., Beri, S., De Agostini, C., Novara, F., Fichera, M., Grillo, L., Galesi, O., Vetro, A., Ciccone, R., Bonati, M. T., Giglio, S., Guerrini, R., Osimani, S., Marelli, S., Zucca, C., Grasso, R., Borgatti, R., Mani, E., Motta, C., Molteni, M., Romano, C., Greco, D., Reitano, S., Baroncini, A., Lapi, E., Cecconi, A., Arrigo, G., Patricelli, M. G., Pantaleoni, C., D'Arrigo, S., Riva, D., Sciacca, F., Dalla Bernardina, B., Zoccante, L., Darra, F., Termine, C., Maserati, E., Bigoni, S., Priolo, E., Bottani, A., Gimelli, S., Bena, F., Brusco, A., di Gregorio, E., Bagnasco, I., Giussani, U., Nitsch, L., Politi, P., Martinez-Frias, M. L., Martínez-Fernández, M. L., Martínez Guardia, N., Bremer, A., Anderlid, B.-M., & Zuffardi, O.
- Affiliations
- IRCCS Eugenio Medea (IT)
- University of Pavia (IT)
- Oasi Maria SS (IT)
- IRCCS Istituto Auxologico Italiano (IT)
- Meyer Children's Hospital (IT)
- IRCCS Ospedale San Raffaele (IT)
- Ospedale Santa Maria Annunziata (IT)
- Fondazione IRCCS Istituto Neurologico Carlo Besta (IT)
- University of Verona (IT)
- University of Insubria (IT)
- University of Ferrara (IT)
- Azienda ospedaliera "Bianchi-Melacrino-Morelli" (IT)
- Canton of Geneva (CH)
- University of Turin (IT)
- Ospedale Martini (IT)
- University of Naples Federico II (IT)
- Karolinska Institutet (SE)
- ORCID
- Giorda, Roberto
- Novara, Francesca
- Fichera, Marco
- Grillo, Lucia
- Galesi, Ornella
- Vetro, Annalisa
- Ciccone, Roberto
- Bonati, Maria Teresa
- Giglio, Sabrina
- Guerrini, Renzo
- Osimani, Sara
- Marelli, Susan
- Zucca, Claudio
- Borgatti, Renato
- Mani, Elisa
- Molteni, Massimo
- Romano, Corrado
- Greco, Donatella
- Baroncini, Anna
- Patricelli, Maria Grazia
- Pantaleoni, Chiara
- Riva, Daria
- Sciacca, Francesca
- Zoccante, Leonardo
- Darra, Francesca
- Termine, Cristiano
- Maserati, Emanuela
- Bigoni, Stefania
- Bottani, Armand
- Brusco, Alfredo
- Nitsch, Lucio
- Politi, Pierluigi
- Anderlid, Britt-Marie
- Zuffardi, Orsetta
- Venue
- PLoS Genetics
- Publisher
- Public Library of Science (PLoS)
- Published
- 2011-07-14
- Volume
- 7
- Issue
- 7
- Pages
- e1002173
- ISSN
- 1553-7390 (ISSN-L)
- 1553-7404
- PMC
- PMC3136441
- OpenAlex
- W2144839123
- Cited by
- 224
- References
- 51
- Citations by year
- 2026: 3 · 2025: 2 · 2024: 6 · 2023: 11 · 2022: 15 · 2021: 28 · 2020: 16 · 2019: 10 · 2018: 51 · 2017: 12 · 2016: 11 · 2015: 15 · 2014: 13 · 2013: 10 · 2012: 21
- FWCI
- 8.76
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- PLoS Genetics (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Florence Research (University of Florence) (submittedVersion, cc-by)
- Institutional Research Information System University of Turin (University of Turin) (submittedVersion, cc-by)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Figshare (submittedVersion, cc-by)
- IrInSubria (University of Insubria) (submittedVersion, other-oa)
- UNICA IRIS Institutional Research Information System (University of Cagliari) (submittedVersion)
- Archivio Istituzionale della Ricerca - Università Vita-Salute San Raffaele (submittedVersion)
- Funders
- Regione Lombardia
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- Phelan-McDermid syndrome, ring chromosomes, unbalanced translocation, interstitial deletion, breakpoint junctions, non-homologous end joining, microhomology-mediated break-induced replication, neurological deterioration
- MeSH terms
- Adolescent, Adult, Aged, Aged, 80 and over, Base Sequence, Child, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 22, Female, Humans, Infant, Infant, Newborn, Male, Middle Aged, Molecular Sequence Data, Parents, Ring Chromosomes, Translocation, Genetic, Sequence Deletion, Chromosome Disorders, Comparative Genomic Hybridization, Young Adult
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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