Genetic and clinical heterogeneity in Korean patients with Rubinstein-Taybi syndrome.

ABSTRACT:

Background

Rubinstein-Taybi syndrome (RSTS) is a rare congenital malformation syndrome with clinical characteristics such as hypertrichosis, high arched eyebrows, large beaked nose, and broad thumbs and halluces. RSTS patients showed intellectual disability and health problems such as short stature, ophthalmologic abnormalities, congenital heart defects, genitourinary defects, and variable types of tumors. Although mutations in CREBBP and EP300 genes are associated with RSTS features, genetic causation is still unknown in 30% of patients.

Methods

We present clinical and molecular genetic characteristics of 25 unrelated Korean patients clinically diagnosed with RSTS. Sanger sequencing analysis and multiplex ligation-dependent probe amplification for CREBBP in 25 patients and

SUBMITTER: Choi N 

PROVIDER: S-EPMC8580098 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature