Quantitative Phenotype Morbidity Description of <i>SATB2</i>-Associated Syndrome.

ABSTRACT: Characterized by developmental delay with severe speech delay, dental anomalies, cleft palate, skeletal abnormalities, and behavioral difficulties, SATB2-associated syndrome (SAS) is caused by pathogenic variants in SATB2. The SAS phenotype range of severity has been documented previously in large series. Using data from the SAS registry, we present the SAS severity score, a comprehensive scoring rubric that encompasses 15 different individual neurodevelopmental and systemic features. Higher (more severe) systemic and total (sum of neurodevelopmental and systemic scores) scores were seen for null variants located after amino acid 350 (the start of the CUT1 domain), the recurrent missense Arg389Cys variant (n = 10), intragenic deletions, and larger chromosomal deletions

SUBMITTER: Zarate YA 

PROVIDER: S-EPMC11918880 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature