FGFR2 molecular analysis and related clinical findings in one Chinese family with Crouzon syndrome.

ABSTRACT:

Purpose

The purposed of this study was to investigate the fibroblast growth factor receptor 2 (FGFR2) gene in one Chinese family with Crouzon syndrome and to characterize the related clinical features.

Methods

One family underwent complete ophthalmic examinations, and two patients were diagnosed with Crouzon syndrome. Genomic DNA was extracted from leukocytes of peripheral blood collected from the family and 100 unrelated control subjects from the same population. Exons 8 and 10 of FGFR2 were amplified by polymerase chain reaction (PCR) and directly sequenced. We performed ophthalmic examinations, including best-corrected visual acuity, slit-lamp examination, fundus examination, Pentacam, Goldmann perimetry, and computed tomography (CT) of the skull.

Results

The two p

SUBMITTER: Lin Y 

PROVIDER: S-EPMC3283207 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature