title: Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.
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.
authors.affiliation: Department of Cytogenetics and Molecular Genetics, Centre for Medical Genetics, Women's and Children's Hospital, 72 King William Rd., North Adelaide, SA 5006, Australia.
authors.forename: Karen M
authors.initials: KM
authors.lastname: Lower
authors.forename: Gillian
authors.initials: G
authors.lastname: Turner
authors.forename: Bronwyn A
authors.initials: BA
authors.lastname: Kerr
authors.forename: Katherine D
authors.initials: KD
authors.lastname: Mathews
authors.forename: Marie A
authors.initials: MA
authors.lastname: Shaw
authors.forename: Agi K
authors.initials: AK
authors.lastname: Gedeon
authors.forename: Susan
authors.initials: S
authors.lastname: Schelley
authors.forename: H Eugene
authors.initials: HE
authors.lastname: Hoyme
authors.forename: Susan M
authors.initials: SM
authors.lastname: White
authors.forename: Martin B
authors.initials: MB
authors.lastname: Delatycki
authors.forename: Anne K
authors.initials: AK
authors.lastname: Lampe
authors.forename: Jill
authors.initials: J
authors.lastname: Clayton-Smith
authors.forename: Helen
authors.initials: H
authors.lastname: Stewart
authors.forename: Conny M A
authors.initials: CM
authors.lastname: van Ravenswaay
authors.forename: Bert B A
authors.initials: BB
authors.lastname: de Vries
authors.forename: Barbara
authors.initials: B
authors.lastname: Cox
authors.forename: Markus
authors.initials: M
authors.lastname: Grompe
authors.forename: Shelley
authors.initials: S
authors.lastname: Ross
authors.forename: Paul
authors.initials: P
authors.lastname: Thomas
authors.forename: John C
authors.initials: JC
authors.lastname: Mulley
authors.forename: Jozef
authors.initials: J
authors.lastname: Gécz
mesh_terms: D020816:Amino Acid Motifs; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D000818:Animals; D002466:Cell Nucleolus / Q000378:metabolism; D002467:Cell Nucleus / Q000378:metabolism; D004622:Embryo, Mammalian / Q000378:metabolism; D005260:Female; D020022:Genetic Predisposition to Disease; D049452:Green Fluorescent Proteins; D006367:HeLa Cells; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008164:Luminescent Proteins / Q000378:metabolism; D008297:Male; D051379:Mice; D018895:Microsatellite Repeats; D008969:Molecular Sequence Data; D009154:Mutation; D020125:Mutation, Missense; D010375:Pedigree; D020161:Physical Chromosome Mapping; D016415:Sequence Alignment; D013577:Syndrome; D014162:Transfection; D014960:X Chromosome; D016335:Zinc Fingers
chemical_list: D008164:Luminescent Proteins; D049452:Green Fluorescent Proteins