Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene.

ABSTRACT:

Background

Patients with pathogenic variants in ZBTB18 present with Intellectual Disability (ID) with frequent co-occurrence of corpus callosum (CC) anomalies, hypotonia, microcephaly, growth problems and variable facial dysmorphologies. These features illustrate a key role for ZBTB18 in brain development.

Methods

Patients with a pathogenic variant in ZBTB18 were detected by diagnostic whole exome sequencing (WES) performed in our center. We reviewed the literature and used GeneMatcher to include other cases. YASARA and WHAT IF were used to provide insight into the structural effect of missense variants located in the C2H2 zinc finger domains of the ZBTB18 protein.

Results

We give a complete overview of pathogenic variants in ZBTB18 detected to date, showing inconsist

SUBMITTER: van der Schoot V 

PROVIDER: S-EPMC6014478 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature