Identical EP300 variant leading to Rubinstein-Taybi syndrome with different clinical and immunologic phenotype.
CREBBP
EP300
Rubinstein-Taybi syndrome
inborn errors of immunity
syndromic immunodeficiency
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:
17
11
2021
received:
26
04
2021
accepted:
23
11
2021
pubmed:
11
3
2022
medline:
15
6
2022
entrez:
10
3
2022
Statut:
ppublish
Résumé
The Rubinstein-Taybi syndrome (RSTS) is a rare developmental disorder characterized by craniofacial dysmorphisms, broad thumbs and toes, intellectual disability, growth deficiency, and recurrent infections. Mutations in the cyclic adenosine monophosphate response element-binding protein (CREB)-binding protein (CREBBP) or in the E1A-associated protein p300 (EP300) genes have been demonstrated in 55% (RSTS1) and up to 8% of the patients (RSTS2), respectively. Dysfunction of immune response has been reported in a subgroup of individuals with RSTS. Here we characterize two patients carrying the same EP300 variant and distinctive RSTS features (including congenital heart abnormalities, short stature, feeding problems, and gastroesophageal reflux). Whole exome sequencing did not support a dual molecular diagnosis hypothesis. Nonetheless, patients showed distinct clinical manifestations and immunological features. The most severe phenotype was associated with reduced T-cell production and diversity. This latter feature was confirmed in a control group of four RSTS patients.
Identifiants
pubmed: 35266289
doi: 10.1002/ajmg.a.62719
doi:
Substances chimiques
CREB-Binding Protein
EC 2.3.1.48
E1A-Associated p300 Protein
EC 2.3.1.48
EP300 protein, human
EC 2.3.1.48
Types de publication
Case Reports
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
2129-2134Informations de copyright
© 2022 Wiley Periodicals LLC.
Références
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