Mutation Screening of Candidate Genes in Patients with Nonsyndromic Sagittal Craniosynostosis.

ABSTRACT:

Background

Craniosynostosis is a condition that includes the premature fusion of one or multiple cranial sutures. Among various craniosynostosis forms, sagittal nonsyndromic craniosynostosis is the most prevalent. Although different gene mutations have been identified in some craniosynostosis syndromes, the cause of sagittal nonsyndromic craniosynostosis remains largely unknown.

Methods

To screen for candidate genes for sagittal nonsyndromic craniosynostosis, the authors sequenced DNA of 93 sagittal nonsyndromic craniosynostosis patients from a population-based study conducted in Iowa and New York states. FGFR1-3 mutational hotspots and the entire TWIST1, RAB23, and BMP2 coding regions were screened because of their known roles in human nonsyndromic or syndromic sagittal cra

SUBMITTER: Ye X 

PROVIDER: S-EPMC4770826 | biostudies-literature | 2016 Mar

REPOSITORIES: biostudies-literature