Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques.
Beckwith-Wiedemann spectrum
assisted reproductive technologies
hypomethylation
imprinting disorders
uniparental disomy
Journal
Clinical genetics
ISSN: 1399-0004
Titre abrégé: Clin Genet
Pays: Denmark
ID NLM: 0253664
Informations de publication
Date de publication:
10 2022
10 2022
Historique:
revised:
13
07
2022
received:
21
06
2022
accepted:
14
07
2022
pubmed:
18
7
2022
medline:
9
9
2022
entrez:
17
7
2022
Statut:
ppublish
Résumé
The prevalence of Beckwith-Wiedemann spectrum (BWSp) is tenfold increased in children conceived through assisted reproductive techniques (ART). More than 90% of ART-BWSp patients reported so far display imprinting center 2 loss-of-methylations (IC2-LoM), versus 50% of naturally conceived BWSp patients. We describe a cohort of 74 ART-BWSp patients comparing their features with a cohort of naturally conceived BWSp patients, with the ART-BWSp patients previously described in literature, and with the general population of children born from ART. We found that the distribution of UPD(11)pat was not significantly different in ART and naturally conceived patients. We observed 68.9% of IC2-LoM and 16.2% of mosaic UPD(11)pat in our ART cohort, that strongly differ from the figure reported in other cohorts so far. Since UPD(11)pat likely results from post-fertilization recombination events, our findings allows to hypothesize that more complex molecular mechanisms, besides methylation disturbances, may underlie BWSp increased risk in ART pregnancies. Moreover, comparing the clinical features of ART and non-ART BWSp patients, we found that ART-BWSp patients might have a milder phenotype. Finally, our data show a progressive increase in the prevalence of BWSp over time, paralleling that of ART usage in the last decades.
Identifiants
pubmed: 35842840
doi: 10.1111/cge.14193
pmc: PMC9545072
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
314-323Informations de copyright
© 2022 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.
Références
Am J Hum Genet. 2003 May;72(5):1338-41
pubmed: 12772698
J Assist Reprod Genet. 2018 Jun;35(6):985-992
pubmed: 29936652
Genes (Basel). 2021 Oct 26;12(11):
pubmed: 34828310
Clin Genet. 2016 Apr;89(4):403-415
pubmed: 26138266
Clin Epigenetics. 2013 Dec 10;5(1):23
pubmed: 24325814
Hum Mutat. 2015 Sep;36(9):894-902
pubmed: 26077438
Hum Reprod. 2007 Sep;22(9):2476-80
pubmed: 17586835
Ups J Med Sci. 2020 May;125(2):158-166
pubmed: 32124667
Clin Epigenetics. 2020 Jul 22;12(1):111
pubmed: 32698867
Hum Reprod. 2007 Dec;22(12):3237-40
pubmed: 17921133
Horm Res Paediatr. 2013;80(6):457-65
pubmed: 24335096
Am J Med Genet A. 2013 Oct;161A(10):2481-6
pubmed: 23918458
Am J Med Genet A. 2019 Sep;179(9):1691-1702
pubmed: 31339634
Am J Hum Genet. 2003 Jan;72(1):156-60
pubmed: 12439823
Pediatr Blood Cancer. 2020 Jan;67(1):e28042
pubmed: 31612591
Ups J Med Sci. 2020 May;125(2):152-157
pubmed: 32101068
Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):693-708
pubmed: 31469230
Nat Rev Endocrinol. 2018 Apr;14(4):229-249
pubmed: 29377879
Hum Reprod Update. 2019 Mar 1;25(2):137-158
pubmed: 30753453
Hum Reprod Open. 2020 Feb 06;2020(1):hoz044
pubmed: 32042927
Fertil Steril. 2009 Feb;91(2):305-15
pubmed: 19201275
J Pediatr. 2016 Sep;176:142-149.e1
pubmed: 27372391
J Am Soc Nephrol. 2002 Aug;13(8):2077-84
pubmed: 12138139
J Med Genet. 2006 Dec;43(12):902-7
pubmed: 16825435
Eur J Med Genet. 2013 Oct;56(10):546-50
pubmed: 23892181
Clin Genet. 2022 Oct;102(4):314-323
pubmed: 35842840
Am J Hum Genet. 2004 Sep;75(3):526-8
pubmed: 15284956
Am J Med Genet. 1992 Feb 15;42(4):633-7
pubmed: 1609846
Hum Reprod. 2021 Jan 1;36(1):116-129
pubmed: 33251542
Clin Epigenetics. 2014 Jun 04;6(1):11
pubmed: 24982696
J Med Genet. 2003 Jan;40(1):62-4
pubmed: 12525545
Pediatrics. 2017 Jul;140(1):
pubmed: 28634246
Eur J Hum Genet. 2016 Feb;24(2):183-90
pubmed: 25898929
Hum Reprod. 2012 Aug;27(8):2541-8
pubmed: 22674207
Am J Med Genet A. 2016 Oct;170(10):2740-9
pubmed: 27480579
Hum Reprod. 2006 Apr;21(4):1009-11
pubmed: 16361294
Eur J Hum Genet. 2008 May;16(5):565-71
pubmed: 18212817
Pediatr Nephrol. 2012 Mar;27(3):397-406
pubmed: 22015620
Eur J Pediatr. 2011 Nov;170(11):1407-11
pubmed: 21448630
Hum Reprod. 2009 Mar;24(3):741-7
pubmed: 19073614
Clin Epigenetics. 2020 Sep 14;12(1):139
pubmed: 32928291
Clin Epigenetics. 2019 Feb 7;11(1):21
pubmed: 30732658
Am J Med Genet A. 2019 Jul;179(7):1139-1147
pubmed: 31067005
Epigenetics. 2019 Sep;14(9):850-876
pubmed: 31144574