Börjeson-forssman-lehmann syndrome due to a novel plant homeodomain zinc finger mutation in the PHF6 gene

Mangelsdorf, Marie, Chevrier, Evelyne, Mustonen, Aki and Picketts, David J. (2009) Börjeson-forssman-lehmann syndrome due to a novel plant homeodomain zinc finger mutation in the PHF6 gene. Journal of Child Neurology, 24 5: 610-614. doi:10.1177/0883073808327830


Author Mangelsdorf, Marie
Chevrier, Evelyne
Mustonen, Aki
Picketts, David J.
Title Börjeson-forssman-lehmann syndrome due to a novel plant homeodomain zinc finger mutation in the PHF6 gene
Journal name Journal of Child Neurology   Check publisher's open access policy
ISSN 0883-0738
Publication date 2009-01-01
Sub-type Article (original research)
DOI 10.1177/0883073808327830
Volume 24
Issue 5
Start page 610
End page 614
Total pages 4
Place of publication United States
Publisher Sage Publications, Inc.
Language eng
Subject 1109 Neurosciences
06 Biological Sciences
Abstract The Börjeson-Forssman-Lehmann syndrome is an X-linked mental retardation disorder caused by mutations in the PHF6 gene. The PHF6 gene contains 2 plant homeodomain zinc fingers, suggesting a role for the protein in chromatin remodeling. In this study, the authors report on a Finnish family with a classical Börjeson-Forssman-Lehmann syndrome phenotype caused by a G to T nucleotide substitution at position 266 within exon 4 within the PHF6 gene (c.266G>T). The resulting glycine to valine (p.G89V) change corresponds to a highly conserved residue within the first plant homeodomain zinc finger domain. This is a novel change that adds to the number of plant homeodomain zinc finger mutations identified, such that 23% of all Börjeson-Forssman-Lehmann syndrome mutations lie within this motif. Moreover, it highlights the functional importance of plant homeodomain zinc finger motifs to human disease and more specifically to PHF6 function.
Keyword Börjeson-Forssman-Lehmann syndrome
PHF6
plant homeodomain zinc finger
chromatin remodeling
X-linked mental retardation
Q-Index Code C1
Q-Index Status Provisional Code

Document type: Journal Article
Sub-type: Article (original research)
Collection: Queensland Brain Institute Publications
 
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Created: Mon, 27 Sep 2010, 22:26:47 EST by Laura McTaggart on behalf of Queensland Brain Institute