Please use this identifier to cite or link to this item:
Scopus Web of Science® Altmetric
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
Statement of
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
Hela Cells
X Chromosome
Cell Nucleus
Cell Nucleolus
Luminescent Proteins
Green Fluorescent Proteins
Amino Acid Substitution
Sequence Alignment
Microsatellite Repeats
Zinc Fingers
Mutation, Missense
Amino Acid Sequence
Amino Acid Motifs
Molecular Sequence Data
Embryo, Mammalian
Genetic Predisposition to Disease
Physical Chromosome Mapping
Intellectual Disability
DOI: 10.1038/ng1040
Published version:
Appears in Collections:Aurora harvest 2
Molecular and Biomedical Science publications

Files in This Item:
There are no files associated with this item.

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.