Document Detail


Börjeson-Forssman-Lehmann Syndrome due to a novel plant homeodomain zinc finger mutation in the PHF6 gene.
MedLine Citation:
PMID:  19264739     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Marie Mangelsdorf; Evelyne Chevrier; Aki Mustonen; David J Picketts
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2009-03-04
Journal Detail:
Title:  Journal of child neurology     Volume:  24     ISSN:  1708-8283     ISO Abbreviation:  J. Child Neurol.     Publication Date:  2009 May 
Date Detail:
Created Date:  2009-05-01     Completed Date:  2009-08-10     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8606714     Medline TA:  J Child Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  610-4     Citation Subset:  IM    
Affiliation:
Regenerative Medicine Program, Ottawa Health Research Institute, Ontario, Canada.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*
Adult
Amino Acid Sequence
Carrier Proteins / chemistry,  genetics*
DNA Mutational Analysis
Family
Female
Humans
Male
Mental Retardation, X-Linked / genetics*
Middle Aged
Molecular Sequence Data
Mutation, Missense
Pedigree
Phenotype
Sequence Alignment
Syndrome
Young Adult
Zinc Fingers*
Chemical
Reg. No./Substance:
0/Carrier Proteins; 0/PHF6 protein, human

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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