Use of next-generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders.

ABSTRACT:

Background

Inherited platelet function disorders (PFDs) are heterogeneous, and identification of the underlying genetic defects is difficult when based solely on phenotypic and clinical features of the patient.

Objective

To analyze 329 genes regulating platelet function, number, and size in order to identify candidate gene defects in patients with PFDs.

Patients/methods

Targeted analysis of candidate PFD genes was undertaken after next-generation sequencing of exomic DNA from 18 unrelated index cases with PFDs who were recruited into the UK Genotyping and Phenotyping of Platelets (GAPP) study and diagnosed with platelet abnormalities affecting either Gi signaling (n = 12) or secretion (n = 6). The potential pathogenicity of candidate gene defects was assessed using co

SUBMITTER: Leo VC 

PROVIDER: S-EPMC4383639 | biostudies-literature | 2015 Apr

REPOSITORIES: biostudies-literature