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Börjeson-Forssman-Lehmann Syndrome Due to a Novel Plant Homeodomain Zinc Finger Mutation in the PHF6 Gene

Regenerative Medicine Program, Ottawa Health Research Institute, Ottawa, Ontario, Canada

Evelyne Chevrier, MSc

Regenerative Medicine Program, Ottawa Health Research Institute, Ottawa, Ontario, Canada

Aki Mustonen, MD

Department of Clinical Genetics, Oulu University Hospital, Oulu, Finland

David J. Picketts, PhD

Regenerative Medicine Program, Ottawa Health Research Institute, Ottawa, Ontario, Canada, Departments of Medicine and Biochemistry, Microbiology, and Immunology, and the Centre for Neuromuscular Disease, University of Ottawa, Ottawa, Ontario, Canada, dpicketts{at}ohri.ca

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.

Key Words: Börjeson-Forssman-Lehmann syndrome • PHF6 • plant homeodomain zinc finger • chromatin remodeling • X-linked mental retardation

This version was published on May 1, 2009

Journal of Child Neurology, Vol. 24, No. 5, 610-614 (2009)
DOI: 10.1177/0883073808327830


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