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Further delineation of 2p13.2-p11.2 deletion syndrome by optical genome mapping.

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Τίτλος: Further delineation of 2p13.2-p11.2 deletion syndrome by optical genome mapping.
Συγγραφείς: Privitera F; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Via dei Giacinti 2, Pisa, 56128, Italy.; Molecular Medicine, IRCCS Fondazione Stella Maris, Via dei Giacinti 2, Pisa, 56128, Italy., Pagano S; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Via dei Giacinti 2, Pisa, 56128, Italy.; Molecular Medicine, IRCCS Fondazione Stella Maris, Via dei Giacinti 2, Pisa, 56128, Italy., Nutile G; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Via dei Giacinti 2, Pisa, 56128, Italy.; Molecular Medicine, IRCCS Fondazione Stella Maris, Via dei Giacinti 2, Pisa, 56128, Italy., Meossi C; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Via dei Giacinti 2, Pisa, 56128, Italy.; Molecular Medicine, IRCCS Fondazione Stella Maris, Via dei Giacinti 2, Pisa, 56128, Italy., Battini R; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Via dei Giacinti 2, Pisa, 56128, Italy.; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, 56126, Italy., Schifino M; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Via dei Giacinti 2, Pisa, 56128, Italy., Santorelli FM; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Via dei Giacinti 2, Pisa, 56128, Italy. filippo.santorelli@fsm.unipi.it.; Molecular Medicine, IRCCS Fondazione Stella Maris, Via dei Giacinti 2, Pisa, 56128, Italy. filippo.santorelli@fsm.unipi.it.; IRCCS Stella Maris Foundation, via dei Giacinti 2, Calambrone, Pisa, 56128, Italy. filippo.santorelli@fsm.unipi.it.
Πηγή: Neurogenetics [Neurogenetics] 2026 Sep 19; Vol. 27 (1). Date of Electronic Publication: 2026 Sep 19.
Τύπος έκδοσης: Journal Article; Case Reports
Γλώσσα: English
Στοιχεία περιοδικού: Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Electronic Cited Medium: Internet ISSN: 1364-6753 (Electronic) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE
Imprint Name(s): Publication: <2002->: [New York, N.Y.?] : Springer-Verlag
Original Publication: Oxford, UK : Oxford University Press, c1997-
Ιατρικοί όροι (MeSH): Chromosome Mapping*/methods , Chromosomes, Human, Pair 2*/genetics , Chromosome Deletion*, Humans ; Male ; Comparative Genomic Hybridization ; Syndrome ; Child
Περίληψη: Deletions of the short arm of chromosome 2 are rare, and phenotypical differences depend on the cytobands involved. Here, we present a new patient carrying a de novo heterozygous 2p13-p11.2 deletion, detected by array CGH and further investigated by optical genome mapping. We compare his clinical findings with few other similar cases described in the literature, and with those associated with 2p12-p11.2 deletions. We conclude that the two conditions are clinically overlapping, and propose genes not previously implicated, such as TET3 and CCT7, may aggravate their main clinical features in the context of a contiguous multigenic deletion syndrome.
(© 2026. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)
Competing Interests: Declarations. Institutional review board statement: The study was approved by the Tuscany Region Ethics Committee (154/2020). Informed consent statement: The patients gave informed consent for diagnostic testing and research studies. The study was conducted in accordance with the Helsinki Declaration of 1964, as revised in October 2013 in Fortaleza, Brazil. Financial interests: The authors declare they have no financial interests. Competing interests: The authors declare no competing interests.
References: Nat Commun. 2016 Dec 08;7:13821. (PMID: 27929117)
Am J Med Genet. 1989 Oct;34(2):268-70. (PMID: 2817010)
J Med Genet. 1994 Jan;31(1):72-3. (PMID: 8151644)
Am J Med Genet A. 2009 Feb;149A(2):242-5. (PMID: 19161151)
Science. 2024 Nov;386(6721):516-525. (PMID: 39480921)
Am J Med Genet A. 2004 Dec 15;131(3):310-2. (PMID: 15540175)
Genet Med. 2015 May;17(5):405-24. (PMID: 25741868)
J Med Genet. 1993 Jul;30(7):604-6. (PMID: 8411037)
Eur J Hum Genet. 2015 Apr;23(4):543-6. (PMID: 24986827)
Fam Cancer. 2018 Jan;17(1):71-77. (PMID: 28555354)
Genes (Basel). 2023 Dec 16;14(12):. (PMID: 38137045)
Neuromuscul Disord. 1998 Apr;8(2):115-8. (PMID: 9608565)
Am J Med Genet. 1988 Aug;30(4):929-38. (PMID: 3055987)
Am J Med Genet. 1999 Nov 19;87(2):139-42. (PMID: 10533028)
Eur J Med Genet. 2019 Mar;62(3):204-209. (PMID: 30031152)
Grant Information: Ricerca Corrente 2025 Ministero della Salute
Contributed Indexing: Keywords: CCT7; TET3; 2p deletion syndrome; Optical Genome Mapping
Entry Date(s): Date Created: 20260919 Date Completed: 20260919 Latest Revision: 20261008
Update Code: 20261008
DOI: 10.1007/s10048-026-00942-y
PMID: 42762249
Βάση Δεδομένων: MEDLINE
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  Data: Deletions of the short arm of chromosome 2 are rare, and phenotypical differences depend on the cytobands involved. Here, we present a new patient carrying a de novo heterozygous 2p13-p11.2 deletion, detected by array CGH and further investigated by optical genome mapping. We compare his clinical findings with few other similar cases described in the literature, and with those associated with 2p12-p11.2 deletions. We conclude that the two conditions are clinically overlapping, and propose genes not previously implicated, such as TET3 and CCT7, may aggravate their main clinical features in the context of a contiguous multigenic deletion syndrome.&lt;br /&gt; (&#169; 2026. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)
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  Data: Declarations. Institutional review board statement: The study was approved by the Tuscany Region Ethics Committee (154/2020). Informed consent&#160;statement: The patients gave informed consent for diagnostic testing and research studies. The study was conducted in accordance with the Helsinki Declaration of 1964, as revised in October 2013 in Fortaleza, Brazil. Financial interests: The authors declare they have no financial interests. Competing interests: The authors declare no competing interests.
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  Data: Nat Commun. 2016 Dec 08;7:13821. (PMID: &lt;searchLink fieldCode=&quot;PM&quot; term=&quot;%2227929117%22&quot;&gt;27929117)&lt;/searchLink&gt;&lt;br /&gt;Am J Med Genet. 1989 Oct;34(2):268-70. (PMID: &lt;searchLink fieldCode=&quot;PM&quot; term=&quot;%222817010%22&quot;&gt;2817010)&lt;/searchLink&gt;&lt;br /&gt;J Med Genet. 1994 Jan;31(1):72-3. (PMID: &lt;searchLink fieldCode=&quot;PM&quot; term=&quot;%228151644%22&quot;&gt;8151644)&lt;/searchLink&gt;&lt;br /&gt;Am J Med Genet A. 2009 Feb;149A(2):242-5. (PMID: &lt;searchLink fieldCode=&quot;PM&quot; term=&quot;%2219161151%22&quot;&gt;19161151)&lt;/searchLink&gt;&lt;br /&gt;Science. 2024 Nov;386(6721):516-525. (PMID: &lt;searchLink fieldCode=&quot;PM&quot; term=&quot;%2239480921%22&quot;&gt;39480921)&lt;/searchLink&gt;&lt;br /&gt;Am J Med Genet A. 2004 Dec 15;131(3):310-2. (PMID: &lt;searchLink fieldCode=&quot;PM&quot; term=&quot;%2215540175%22&quot;&gt;15540175)&lt;/searchLink&gt;&lt;br /&gt;Genet Med. 2015 May;17(5):405-24. (PMID: &lt;searchLink fieldCode=&quot;PM&quot; term=&quot;%2225741868%22&quot;&gt;25741868)&lt;/searchLink&gt;&lt;br /&gt;J Med Genet. 1993 Jul;30(7):604-6. (PMID: &lt;searchLink fieldCode=&quot;PM&quot; term=&quot;%228411037%22&quot;&gt;8411037)&lt;/searchLink&gt;&lt;br /&gt;Eur J Hum Genet. 2015 Apr;23(4):543-6. (PMID: &lt;searchLink fieldCode=&quot;PM&quot; term=&quot;%2224986827%22&quot;&gt;24986827)&lt;/searchLink&gt;&lt;br /&gt;Fam Cancer. 2018 Jan;17(1):71-77. (PMID: &lt;searchLink fieldCode=&quot;PM&quot; term=&quot;%2228555354%22&quot;&gt;28555354)&lt;/searchLink&gt;&lt;br /&gt;Genes (Basel). 2023 Dec 16;14(12):. (PMID: &lt;searchLink fieldCode=&quot;PM&quot; term=&quot;%2238137045%22&quot;&gt;38137045)&lt;/searchLink&gt;&lt;br /&gt;Neuromuscul Disord. 1998 Apr;8(2):115-8. (PMID: &lt;searchLink fieldCode=&quot;PM&quot; term=&quot;%229608565%22&quot;&gt;9608565)&lt;/searchLink&gt;&lt;br /&gt;Am J Med Genet. 1988 Aug;30(4):929-38. (PMID: &lt;searchLink fieldCode=&quot;PM&quot; term=&quot;%223055987%22&quot;&gt;3055987)&lt;/searchLink&gt;&lt;br /&gt;Am J Med Genet. 1999 Nov 19;87(2):139-42. (PMID: &lt;searchLink fieldCode=&quot;PM&quot; term=&quot;%2210533028%22&quot;&gt;10533028)&lt;/searchLink&gt;&lt;br /&gt;Eur J Med Genet. 2019 Mar;62(3):204-209. (PMID: &lt;searchLink fieldCode=&quot;PM&quot; term=&quot;%2230031152%22&quot;&gt;30031152)&lt;/searchLink&gt;
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