TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.

ABSTRACT:

Purpose

TANGO2-related disorders were first described in 2016 and prior to this publication, only 15 individuals with TANGO2-related disorder were described in the literature. Primary features include metabolic crisis with rhabdomyolysis, encephalopathy, intellectual disability, seizures, and cardiac arrhythmias. We assess whether genotype and phenotype of TANGO2-related disorder has expanded since the initial discovery and determine the efficacy of exome sequencing (ES) as a diagnostic tool for detecting variants.

Methods

We present a series of 14 individuals from 11 unrelated families with complex medical and developmental histories, in whom ES or microarray identified compound heterozygous or homozygous variants in TANGO2.

Results

The initial presentation of patien

SUBMITTER: Dines JN 

PROVIDER: S-EPMC6752277 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature