The germline p53 activation syndrome: A new patient further refines the clinical phenotype

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 r...

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Bibliographic Details
Published inAmerican journal of medical genetics. Part A Vol. 188; no. 7; pp. 2204 - 2208
Main Authors Kumar, Runjun D., Tosur, Mustafa, Lalani, Seema R., Mahoney, Donald H., Bertuch, Alison A.
Format Journal Article
LanguageEnglish
Published Hoboken, USA John Wiley & Sons, Inc 01.07.2022
Wiley Subscription Services, Inc
Subjects
Aplasia
Bone marrow
bone marrow failure
Genomic instability
Intellectual disabilities
Microencephaly
nonsense‐mediated decay
p53
p53 Protein
Patients
Phenotypes
Radiosensitivity
red cell aplasia
Seizures
Telomeres
Transcription activation
Tumor suppressor genes
Tumors
bone marrow failure
red cell aplasia
nonsense-mediated decay
p53
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Summary: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.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.62749