Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

ABSTRACT:

Purpose

Somatic variants in tumor necrosis factor receptor-associated factor 7 (TRAF7) cause meningioma, while germline variants have recently been identified in seven patients with developmental delay and cardiac, facial, and digital anomalies. We aimed to define the clinical and mutational spectrum associated with TRAF7 germline variants in a large series of patients, and to determine the molecular effects of the variants through transcriptomic analysis of patient fibroblasts.

Methods

We performed exome, targeted capture, and Sanger sequencing of patients with undiagnosed developmental disorders, in multiple independent diagnostic or research centers. Phenotypic and mutational comparisons were facilitated through data exchange platforms. Whole-transcriptome sequencing was

SUBMITTER: Castilla-Vallmanya L 

PROVIDER: S-EPMC8093014 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature