Double somatic mosaicism in Cornelia de Lange syndrome.
Am J Med Genet A
; 194(5): e63512, 2024 05.
Article
in En
| MEDLINE
| ID: mdl-38135466
ABSTRACT
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
De Lange Syndrome
Limits:
Humans
Language:
En
Journal:
Am J Med Genet A
Journal subject:
GENETICA MEDICA
Year:
2024
Document type:
Article
Affiliation country:
Country of publication: