Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2.

ABSTRACT:

Background

The Pierre Robin sequence (PRS), consisting of cleft palate, micrognathia and glossoptosis, can be seen as part of the phenotype in other Mendelian syndromes--for instance, campomelic dysplasia (CD) which is caused by SOX9 mutations--but the aetiology of non-syndromic PRS has not yet been unravelled.

Objective

To gain more insight into the aetiology of PRS by studying patients with PRS using genetic and cytogenetic methods.

Methods

10 unrelated patients with PRS were investigated by chromosome analyses and bacterial artificial chromosome arrays. A balanced translocation was found in one patient, and the breakpoints were mapped with fluorescence in situ hybridisation and Southern blot analysis. All patients were screened for SOX9 and KCNJ2 mutations, and in

SUBMITTER: Jakobsen LP 

PROVIDER: S-EPMC2740883 | biostudies-literature | 2007 Jun

REPOSITORIES: biostudies-literature