Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals.
22q13 deletion syndrome
Phelan-McDermid syndrome (PMS)
SHANK3
autistic behavior
intellectual disabilities (ID)
subtelomeric deletion syndrome
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2022
2022
Historique:
received:
12
01
2021
accepted:
16
02
2022
entrez:
2
5
2022
pubmed:
3
5
2022
medline:
3
5
2022
Statut:
epublish
Résumé
Phelan-McDermid syndrome (PMS, OMIM# 606232) results from either different rearrangements at the distal region of the long arm of chromosome 22 (22q13.3) or pathogenic sequence variants in the
Identifiants
pubmed: 35495150
doi: 10.3389/fgene.2022.652454
pii: 652454
pmc: PMC9044489
doi:
Types de publication
Journal Article
Langues
eng
Pagination
652454Investigateurs
Mena Rocío
(M)
Lleguer Roser
(L)
Fernández-Montaño Victoria
(FM)
Martín Rubén
(M)
Fernández Blanca
(F)
García-Santiago Fé
(GS)
Gómez Del Pozo Victoria
(GDP)
Peña Carolina
(P)
Alhambra Norma
(A)
García Carlos
(G)
Rodríguez Juan Ramón
(R)
Martínez-Bermejo Antonio
(MB)
Málaga Ignacio
(M)
Martínez-Monseny Antonio Federico
(MM)
Armstrong Judith
(A)
Anticona Jennifer
(A)
Hernando-Davalillo Cristina
(HD)
San Martí Adrián Alcalá
(SM)
Martorell Loreto
(M)
Yubero Delia
(Y)
Nunes Tania
(N)
Callaghan Mar O
(C)
Alonso Xenia
(A)
Ramos Federico
(R)
López Jesús Casas
(L)
López-González Vanesa
(LG)
M Juliana Ballesta
(M)
Armengol Lluís
(A)
González-Meneses Antonio
(GM)
Borrego Salud
(B)
Roselló Mónica
(R)
Suela Javier
(S)
Pérez-Granero Ángeles
(PG)
Rodríguez-Revenga Laia
(RR)
Informations de copyright
Copyright © 2022 Nevado, García-Miñaúr, Palomares-Bralo, Vallespín, Guillén-Navarro, Rosell, Bel-Fenellós, Mori, Milá, Campo, Barrúz, Santos-Simarro, Obregón, Orellana, Pachajoa, Tenorio, Galán, Cigudosa, Moresco, Saleme, Castillo, Gabau, Pérez-Jurado, Barcia, Martín, Mansilla, Vallcorba, García-Murillo, Cammarata-Scalisi, Gonçalves Pereira, Blanco-Lago, Serrano, Ortigoza-Escobar, Gener, Seidel, Tirado, Lapunzina and Spanish PMS Working Group.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
Références
Nat Genet. 2011 Aug 14;43(9):838-46
pubmed: 21841781
Eur J Hum Genet. 2015 Dec;23(12):1615-26
pubmed: 25853300
Am J Med Genet A. 2010 Mar;152A(3):573-81
pubmed: 20186804
Am J Med Genet A. 2014 Jul;164A(7):1666-76
pubmed: 24700646
Mol Autism. 2018 Apr 27;9:31
pubmed: 29719671
PLoS One. 2021 Jul 6;16(7):e0253859
pubmed: 34228749
Genet Med. 2015 Jul;17(7):578-86
pubmed: 25356970
Nat Neurosci. 2017 Sep;20(9):1217-1224
pubmed: 28714951
Am J Hum Genet. 2001 Aug;69(2):261-8
pubmed: 11431708
PLoS Genet. 2014 Sep 04;10(9):e1004580
pubmed: 25188300
Orphanet J Rare Dis. 2015 Aug 27;10:105
pubmed: 26306707
Am J Med Genet A. 2021 Jul;185(7):2211-2233
pubmed: 33949759
Hum Genet. 2014 Jul;133(7):847-59
pubmed: 24481935
Eur J Med Genet. 2020 Nov;63(11):104042
pubmed: 32822873
Epilepsia. 2016 Oct;57(10):1651-1659
pubmed: 27554343
Hum Genet. 2015 Jun;134(6):553-68
pubmed: 25724810
Am J Med Genet A. 2013 Aug;161A(8):1950-60
pubmed: 23798500
Am J Hum Genet. 2003 May;72(5):1200-12
pubmed: 12687501
Nucleic Acids Res. 2002 Jun 15;30(12):e57
pubmed: 12060695
Am J Med Genet B Neuropsychiatr Genet. 2009 Apr 5;150B(3):421-4
pubmed: 18615476
J Neurodev Disord. 2019 Jul 18;11(1):13
pubmed: 31319798
NPJ Genom Med. 2019 Aug 23;4:19
pubmed: 31452935
Eur J Med Genet. 2009 Sep-Oct;52(5):328-32
pubmed: 19454329
Mol Syndromol. 2012 Jun;3(1):14-20
pubmed: 22855650
Hum Genet. 2002 May;110(5):439-43
pubmed: 12073014
PLoS Genet. 2011 Jul;7(7):e1002173
pubmed: 21779178
Am J Med Genet A. 2008 Sep 1;146A(17):2242-51
pubmed: 18663743
Am J Med Genet C Semin Med Genet. 2007 Nov 15;145C(4):393-8
pubmed: 17926345
PLoS One. 2015 Nov 06;10(11):e0141782
pubmed: 26544041
Am J Hum Genet. 2010 May 14;86(5):749-64
pubmed: 20466091
Genet Med. 2016 Jul;18(7):696-704
pubmed: 26633542
Hum Mol Genet. 2010 Oct 15;19(R2):R176-87
pubmed: 20807775
Cell Tissue Res. 2006 Nov;326(2):409-22
pubmed: 16865346
Orphanet J Rare Dis. 2020 Nov 30;15(1):335
pubmed: 33256793
PLoS One. 2015 Feb 03;10(2):e0116358
pubmed: 25646853
Clin Genet. 2016 Jun;89(6):700-7
pubmed: 26757139
PLoS One. 2019 Mar 15;14(3):e0213921
pubmed: 30875393
Genome Med. 2017 May 30;9(1):43
pubmed: 28554332
Genet Med. 2013 Jun;15(6):478-81
pubmed: 23258348
Clin Genet. 2020 Mar;97(3):467-476
pubmed: 31972898
J Neurodev Disord. 2016 Apr 26;8:16
pubmed: 27118998
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Neurology. 2017 Oct 24;89(17):e205-e209
pubmed: 29061681
J Med Genet. 2018 Apr;55(4):269-277
pubmed: 29378768
Am J Med Genet. 2002 Feb 1;107(4):275-84
pubmed: 11840483
Mol Autism. 2013 Jun 11;4(1):17
pubmed: 23758743
Int J Mol Sci. 2019 Apr 30;20(9):
pubmed: 31052177
J Neurodev Disord. 2021 Jul 10;13(1):26
pubmed: 34246244
Nat Neurosci. 2017 Apr;20(4):602-611
pubmed: 28263302
Nature. 2020 Oct;586(7831):757-762
pubmed: 33057194
Int J Pediatr Otorhinolaryngol. 2017 Apr;95:121-126
pubmed: 28576520
Genet Med. 2014 Apr;16(4):318-28
pubmed: 24136618
Mol Autism. 2019 Dec 24;10:50
pubmed: 31879555
Psychiatr Genet. 2017 Feb;27(1):23-33
pubmed: 27846046
Eur J Hum Genet. 2021 Apr;29(4):564-574
pubmed: 33293697
NPJ Genom Med. 2017 Oct 23;2:32
pubmed: 29263841
Neuropsychiatr Dis Treat. 2012;8:175-9
pubmed: 22570549
Hum Mutat. 2019 Jun;40(6):801-815
pubmed: 30763456
BMC Med Genomics. 2020 Oct 6;13(1):146
pubmed: 33023580
Eur J Hum Genet. 2008 Nov;16(11):1301-10
pubmed: 18523453
Nat Neurosci. 2016 Sep;19(9):1194-6
pubmed: 27479843
Nat Genet. 2007 Jan;39(1):25-7
pubmed: 17173049
J Med Genet. 2003 Aug;40(8):575-84
pubmed: 12920066
J Med Genet. 2011 Nov;48(11):761-6
pubmed: 21984749
Nat Commun. 2014 Nov 24;5:5595
pubmed: 25418537
Clin Dysmorphol. 2005 Jul;14(3):127-132
pubmed: 15930901
Eur J Hum Genet. 2018 Mar;26(3):293-302
pubmed: 29358616
Eur J Hum Genet. 2013 Mar;21(3):310-6
pubmed: 22892527
Mol Autism. 2013 Jun 11;4(1):18
pubmed: 23758760