Novel heterozygous variants in the EP300 gene cause Rubinstein-Taybi syndrome 2: Reports from two Chinese children.

ABSTRACT:

Background

Rubinstein-Taybi syndrome (RSTS) is a rare autosomal-dominant genetic disease caused by variants of CREBBP (RSTS1) or EP300 (RSTS2) gene. RSTS2 is much less common, with less than 200 reported cases worldwide to date. More reports are still needed to increase the understanding of its clinical manifestations and genetic characteristics.

Methods

The clinical data of two children with RSTS2 were analyzed retrospectively, and their clinical manifestations, auxiliary examinations, and mutational spectrum were summarized. Liquid chromatography-tandem mass spectrometer (LC-MS/MS) technology was used to detect the levels of steroid hormones if possible.

Results

After analyzing the clinical and genetic characteristics of two boys with RSTS2 (0.7 and 10.4 years old,

SUBMITTER: Du C 

PROVIDER: S-EPMC10496081 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature