Clinical characterization of the HOXA1 syndrome BSAS variant.

ABSTRACT:

Background

The Bosley-Salih-Alorainy syndrome (BSAS) variant of the congenital human HOXA1 syndrome results from autosomal recessive truncating HOXA1 mutations. We describe the currently recognized spectrum of ocular motility, inner ear malformations, cerebrovascular anomalies, and cognitive function.

Methods

We examined nine affected individuals from five consanguineous Saudi Arabian families, all of whom harbored the same I75-I76insG homozygous mutation in the HOXA1 gene. Patients underwent complete neurologic, neuro-ophthalmologic, orthoptic, and neuropsychological examinations. Six individuals had CT, and six had MRI of the head.

Results

All nine individuals had bilateral Duane retraction syndrome (DRS) type 3, but extent of abduction and adduction varied between

SUBMITTER: Bosley TM 

PROVIDER: S-EPMC2826214 | biostudies-literature | 2007 Sep

REPOSITORIES: biostudies-literature