Detection of a novel SETBP1 variant in a Chinese neonate with Schinzel-Giedion syndrome.

ABSTRACT: Schinzel-Giedion syndrome (SGS) is a multiple malformation syndrome characterized by typical facial features, severe neurodevelopmental delay, and multiple congenital abnormalities. SGS is associated with de novo pathogenic variants in the SETBP1 gene. In specific, SETBP1 variants in over 50 patients with classical or non-classical SGS were clustered within exon 4. A male Chinese neonate with dysmorphic facial features, nervous system disorders, and organ malformations at birth was examined in this study and long-term followed-up. Whole-exome sequencing was performed to identify any underlying pathogenic variants in the proband. Additionally, we reviewed the literature that documents the main clinical features and underlying variants of all patients genetically diagnos

SUBMITTER: Yang H 

PROVIDER: S-EPMC9488805 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature