Double somatic mosaicism in Cornelia de Lange syndrome.
Cornelia de Lange syndrome
NIPBL
WES
cohesinopathies
double mosaicism
post-zygotic mosaicism
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:
22 Dec 2023
22 Dec 2023
Historique:
revised:
01
12
2023
received:
26
10
2023
accepted:
09
12
2023
medline:
23
12
2023
pubmed:
23
12
2023
entrez:
22
12
2023
Statut:
aheadofprint
Résumé
Post-zygotic mosaicism is a well-known biological phenomenon characterized by the presence of genetically distinct lineages of cells in the same individual due to post-zygotic de novo mutational events. It has been identified in about 13% of Cornelia de Lange (CdLS) syndrome patients with a molecular diagnosis, an unusual high frequency. Here, we report the case of a patient affected by classic CdLS harboring post-zygotic mosaicism for two different likely pathogenic variants at the same nucleotide position in NIPBL. Double somatic mosaicism has never been reported in CdLS and only rarely recognized in human diseases. Possible pathogenetic mechanisms are discussed.
Identifiants
pubmed: 38135466
doi: 10.1002/ajmg.a.63512
doi:
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Progetti di innovazione in ambito sanitario e socio sanitario
Informations de copyright
© 2023 Wiley Periodicals LLC.
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