Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/28212
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Type: Journal article
Title: Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome
Other Titles: Mutations in PHF6 are associated with Borjeson-Forssman-Lehmann syndrome
Author: Lower, K.
Turner, G.
Kerr, B.
Mathews, K.
Shaw, M.
Gedeon, A.
Schelley, S.
Hoyme, H.
White, S.
Delatycki, M.
Lampe, A.
Clayton-Smith, J.
Stewart, H.
van Ravenswaay, C.
de Vries, B.
Cox, B.
Grompe, M.
Ross, S.
Thomas, P.
Mulley, J.
et al.
Citation: Nature Genetics, 2002; 32(4):661-665
Publisher: Nature Publishing Group
Issue Date: 2002
ISSN: 1061-4036
1546-1718
Statement of
Responsibility: 
Karen M. Lower, Gillian Turner, Bronwyn A. Kerr, Katherine D. Mathews, Marie A. Shaw, Ági K. Gedeon, Susan Schelley, H. Eugene Hoyme, Susan M. White, Martin B. Delatycki, Anne K. Lampe, Jill Clayton-Smith, Helen Stewart, Conny M.A. van Ravenswaay, Bert B.A. de Vries, Barbara Cox, Markus Grompe, Shelley Ross, Paul Thomas, John C. Mulley and Jozef Gécz
Abstract: Börjeson–Forssman–Lehmann syndrome (BFLS; OMIM 301900) is characterized by moderate to severe mental retardation, epilepsy, hypogonadism, hypometabolism, obesity with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears. Previously, the gene associated with BFLS was localized to 17 Mb in Xq26–q27 (refs 2–4). We have reduced this interval to roughly 9 Mb containing more than 62 genes. Among these, a novel, widely expressed zinc-finger (plant homeodomain (PHD)-like finger) gene (PHF6) had eight different missense and truncation mutations in seven familial and two sporadic cases of BFLS. Transient transfection studies with PHF6 tagged with green fluorescent protein (GFP) showed diffuse nuclear staining with prominent nucleolar accumulation. Such localization, and the presence of two PHD-like zinc fingers, is suggestive of a role for PHF6 in transcription.
Keywords: Animals; Humans; Mice; Hela Cells; X Chromosome; Cell Nucleus; Cell Nucleolus; Syndrome; Luminescent Proteins; Green Fluorescent Proteins; Transfection; Amino Acid Substitution; Pedigree; Sequence Alignment; Microsatellite Repeats; Zinc Fingers; Mutation; Mutation, Missense; Amino Acid Sequence; Amino Acid Motifs; Molecular Sequence Data; Embryo, Mammalian; Genetic Predisposition to Disease; Physical Chromosome Mapping; Intellectual Disability; Female; Male; Heterozygote
RMID: 0020022456
DOI: 10.1038/ng1040
Appears in Collections:Molecular and Biomedical Science publications

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