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Type: Journal article
Title: Characterization of ARHGEF6, a guanine nucleotide exchange factor for Rho GTPases and a candidate gene for x-linked mental retardation: Mutation screening in Borjeson-Forssman-Lehmann syndrome and MRX27
Author: Lower, K.
Gecz, J.
Citation: American Journal of Medical Genetics Part A, 2001; 100(1):43-48
Publisher: Wiley-Liss
Issue Date: 2001
ISSN: 1552-4825
Abstract: Börjeson-Forssman-Lehmann syndrome (BFLS) is a syndromic X-linked mental retardation that has been mapped by linkage to Xq26-q27. A nonsyndromic mental retardation family, MRX27, has also been localized to a region of the X chromosome overlapping Xq26-q27. The gene for ARHGEF6 (also known as alphaPIX or Cool-2), a newly identified guanine nucleotide exchange factor, was identified as a potential candidate XLMR gene, due to its location within the BFLS and MRX27 critical regions and its function in the regulation of PAK3 (a known MRX gene). The full coding sequence and genomic structure of the gene for ARHGEF6 was established in silico, based on available genomic, EST, and cDNA sequence information. Mutation analysis in BFLS- and MRX27-affected individuals was carried out. No mutations were found in two BFLS families or MRX27. Although ARHGEF6 is unlikely to be the gene responsible for either BFLS or MRX27, it remains a prime candidate for nonspecific or syndromic mental retardation linked to Xq26.
Keywords: X Chromosome
Genetic Predisposition to Disease
Guanine Nucleotide Exchange Factors
Cell Cycle Proteins
Chromosome Mapping
Sequence Analysis, DNA
DNA Mutational Analysis
Gene Expression
Alternative Splicing
Polymorphism, Single Nucleotide
Expressed Sequence Tags
Databases, Factual
Genetic Linkage
Intellectual Disability
Rho Guanine Nucleotide Exchange Factors
DOI: 10.1002/ajmg.1189
Appears in Collections:Aurora harvest 5
Paediatrics publications

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