2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Expansion of the Phenotype in Rubinstein-Taybi Syndrome Type 2 with the Largest Familial Case

Pdf Summary

Rubinstein-Taybi syndrome (RSTS) is a genetic disorder characterized by distinct facial features, growth failure, and various congenital anomalies. RSTS type 2 (RSTS2) is caused by a specific gene variant in EP300 and accounts for around 8-10% of RSTS cases. Most cases of RSTS are not inherited and result from new gene mutations.<br /><br />This study presents the largest family reported in the literature with RSTS2. The first patient is a 2-year-old girl who experienced failure to thrive, vomiting, epilepsy, and developmental delays. She has a family history of a sister who passed away suddenly and another sister who was placed in foster care due to neglect concerns. The second patient is a 33-year-old man with a history of heart defects, normal development, attention issues, and a strong memory. The third patient is an 11-year-old girl with a history of heart defects, failure to thrive, and arthritis.<br /><br />Genetic testing revealed a pathogenic variant in the EP300 gene in all three patients. This variant was inherited from the father in patient 2 and 3. The study expands the understanding of the phenotype of RSTS2 and emphasizes its variability, which can aid in the diagnosis and counseling of individuals with this rare condition. The researchers suggest considering a diagnosis of RSTS2 in cases of failure to thrive, even without the typical features of the syndrome.<br /><br />Overall, this study provides valuable insights into the clinical characteristics and genetic basis of RSTS2, highlighting the importance of genetic testing in the diagnosis and management of affected individuals.

Asset Subtitle

Presenting Author - Dima Qu'd, MS; Co-Author - Julie M. Lander, MD, PhD; Co-Author - Diana S. Brightman, PhD; Co-Author - Brittany N. Simpson;

Meta Tag

Epigenetics

Genetic Testing

Phenotype

Co-Author Julie M. Lander, MD, PhD

Co-Author Diana S. Brightman, PhD

Co-Author Brittany N. Simpson

Presenting Author Dima Qu'd, MS

Keywords

Rubinstein-Taybi syndrome

RSTS

genetic disorder

distinct facial features

growth failure

congenital anomalies

RSTS type 2

EP300 gene variant

gene mutations

failure to thrive