Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein-Taybi syndrome.

ABSTRACT:

Background

Rubinstein-Taybi syndrome (RTS) is a rare, congenital, plurimalformative, and neurodevelopmental disorder. Previous studies have reported that large deletions contribute to more severe RTS phenotypes than those caused by CREBBP point mutations, suggesting a concurrent pathogenetic role of flanking genes, typical of contiguous gene syndromes, but the detailed genetics are unclear.

Results

This study presented a rare case of Rubinstein-Taybi (RT) syndrome with serious cardiac abnormalities. Based on the clinical and genetic analysis of the patient, the ADCY9 gene deletion was highlighted as a plausible explanation of cardiac abnormalities. In adcy9 morphant zebrafish, cardiac malformation was observed. Immunofluorescence study disclosed increased macrophage migratio

SUBMITTER: Wu Y 

PROVIDER: S-EPMC7178576 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature