Novel Timothy syndrome mutation leading to increase in CACNA1C window current.

ABSTRACT:

Background

Timothy syndrome (TS) is a rare multisystem genetic disorder characterized by a myriad of abnormalities, including QT prolongation, syndactyly, and neurologic symptoms. The predominant genetic causes are recurrent de novo missense mutations in exon 8/8A of the CACNA1C-encoded L-type calcium channel; however, some cases remain genetically elusive.

Objective

The purpose of this study was to identify the genetic cause of TS in a patient who did not harbor a CACNA1C mutation in exon 8/A, and was negative for all other plausible genetic substrates.

Methods

Diagnostic exome sequencing was used to identify the genetic substrate responsible for our case of TS. The identified mutation was characterized using whole-cell patch-clamp technique, and the results of these

SUBMITTER: Boczek NJ 

PROVIDER: S-EPMC4907369 | biostudies-literature | 2015 Jan

REPOSITORIES: biostudies-literature