Diagnostic value of exome and whole genome sequencing in craniosynostosis.

ABSTRACT:

Background

Craniosynostosis, the premature fusion of one or more cranial sutures, occurs in ∼1 in 2250 births, either in isolation or as part of a syndrome. Mutations in at least 57 genes have been associated with craniosynostosis, but only a minority of these are included in routine laboratory genetic testing.

Methods

We used exome or whole genome sequencing to seek a genetic cause in a cohort of 40 subjects with craniosynostosis, selected by clinical or molecular geneticists as being high-priority cases, and in whom prior clinically driven genetic testing had been negative.

Results

We identified likely associated mutations in 15 patients (37.5%), involving 14 different genes. All genes were mutated in single families, except for IL11RA (two families). We clas

SUBMITTER: Miller KA 

PROVIDER: S-EPMC5366069 | biostudies-literature | 2017 Apr

REPOSITORIES: biostudies-literature