Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development.

ABSTRACT: Disorders of sex development (DSD) are rare disorders in which there is discordance between chromosomal, gonadal, and phenotypic sex. Only a minority of patients clinically diagnosed with DSD obtains a molecular diagnosis, leaving a large gap in our understanding of the prevalence, management, and outcomes in affected patients. We created a novel DSD-genetic diagnostic tool, in which sex development genes are captured using RNA probes and undergo massively parallel sequencing. In the pilot group of 14 patients, we determined sex chromosome dosage, copy number variation, and gene mutations. In the patients with a known genetic diagnosis (obtained either on a clinical or research basis), this test identified the molecular cause in 100% (7/7) of patients. In patients in whom no molecular diag

SUBMITTER: Arboleda VA 

PROVIDER: S-EPMC4052834 | biostudies-literature | 2013 Jan

REPOSITORIES: biostudies-literature