Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 188, Issue 7, Pages 2129-2134Publisher
WILEY
DOI: 10.1002/ajmg.a.62719
Keywords
CREBBP; EP300; inborn errors of immunity; Rubinstein-Taybi syndrome; syndromic immunodeficiency
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Funding
- Telethon Italy [GTB18001]
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This study characterizes two patients with Rubinstein-Taybi syndrome (RSTS) carrying the same EP300 variant, and identifies distinct clinical manifestations and immunological features. The findings provide important insights into the pathogenesis and diagnosis of this syndrome.
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.
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