The germline p53 activation syndrome: A new patient further refines the clinical phenotype.
bone marrow failure
nonsense-mediated decay
p53
red cell aplasia
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:
07 2022
07 2022
Historique:
revised:
01
03
2022
received:
22
12
2021
accepted:
18
03
2022
pubmed:
2
4
2022
medline:
15
6
2022
entrez:
1
4
2022
Statut:
ppublish
Résumé
The tumor suppressor p53 has well known roles in cancer development and germline cancer predisposition disorders, but increasing evidence supports the role of activation of this transcription factor in the pathogenesis of inherited bone marrow failure and chromosomal instability disorders. Here we report a patient with red cell aplasia, which was steroid responsive, as well as intellectual disability, seizures, microcephaly, short stature, cellular radiosensitivity, and normal telomere lengths, who had a germline heterozygous C-terminal frameshift variant in TP53 similar to others that activate the transcription factor. This is the third reported individual with a germline p53 activation syndrome, with several unique features that refine the clinical disease associated with these variants.
Identifiants
pubmed: 35362179
doi: 10.1002/ajmg.a.62749
doi:
Substances chimiques
Transcription Factors
0
Tumor Suppressor Protein p53
0
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
2204-2208Informations de copyright
© 2022 Wiley Periodicals LLC.
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