MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions.

ABSTRACT:

Background

Cognitive impairments are heterogeneous conditions, and it is estimated that 10% may be caused by a defect of mental function genes on the X chromosome. One of those genes is Aristaless related homeobox (ARX) encoding a polyA-rich homeobox transcription factor essential for cerebral patterning and its mutations cause different neurologic disorders. We reported on the clinical and genetic analysis of an Italian family with X-linked mental retardation (XLMR) and intra-familial heterogeneity, and provided insight into its molecular defect.

Methods

We carried out on linkage-candidate gene studies in a new MRX family (MRX87). All coding regions and exon-intron boundaries of ARX gene were analysed by direct sequencing.

Results

MRX87 patients had moderate to profo

SUBMITTER: Laperuta C 

PROVIDER: S-EPMC1868705 | biostudies-literature | 2007 May

REPOSITORIES: biostudies-literature