Please use this identifier to cite or link to this item:
Scopus Web of Science® Altmetric
Full metadata record
DC FieldValueLanguage
dc.contributor.authorLower, K.en
dc.contributor.authorTurner, G.en
dc.contributor.authorKerr, B.en
dc.contributor.authorMathews, K.en
dc.contributor.authorShaw, M.en
dc.contributor.authorGedeon, A.en
dc.contributor.authorSchelley, S.en
dc.contributor.authorHoyme, H.en
dc.contributor.authorWhite, S.en
dc.contributor.authorDelatycki, M.en
dc.contributor.authorLampe, A.en
dc.contributor.authorClayton-Smith, J.en
dc.contributor.authorStewart, H.en
dc.contributor.authorvan Ravenswaay, C.en
dc.contributor.authorde Vries, B.en
dc.contributor.authorCox, B.en
dc.contributor.authorGrompe, M.en
dc.contributor.authorRoss, S.en
dc.contributor.authorThomas, P.en
dc.contributor.authorMulley, J.en
dc.contributor.authoret al.en
dc.identifier.citationNature Genetics, 2002; 32(4):661-665en
dc.description.abstractBörjeson–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.en
dc.description.statementofresponsibilityKaren 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 Géczen
dc.publisherNature Publishing Groupen
dc.subjectAnimals; 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; Heterozygoteen
dc.titleMutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndromeen
dc.title.alternativeMutations in PHF6 are associated with Borjeson-Forssman-Lehmann syndromeen
dc.typeJournal articleen
pubs.library.collectionMolecular and Biomedical Science publicationsen
dc.identifier.orcidShaw, M. [0000-0002-5060-190X]en
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]en
Appears in Collections: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.