Journal article
Mutations in PHF6 are associated with Börjeson-Forssman -Lehmann syndrome
Nature genetics, Vol.32(4), pp.661-665
12/2002
DOI: 10.1038/ng1040
PMID: 12415272
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.
Details
- Title: Subtitle
- Mutations in PHF6 are associated with Börjeson-Forssman -Lehmann syndrome
- Creators
- Bert B. A de Vries - Department of Human Genetics, University Medical CentreShelley Ross - Murdoch Children's Research Institute, Royal Children's HospitalJozef Gécz - Department of Cytogenetics and Molecular Genetics, Centre for Medical Genetics, Women's and Children's Hospital Department of Paediatrics, University of AdelaideMarkus Grompe - Department of Molecular and Medical Genetics, Oregon Health Sciences UniversityJill Clayton-Smith - Regional Genetic Service, St. Mary's HospitalHelen Stewart - Department of Medical Genetics, Churchill HospitalAnne K Lampe - Department of Clinical Genetics, Institute of Human Genetics, International Centre for LifeÁgi K Gedeon - Department of Cytogenetics and Molecular Genetics, Centre for Medical Genetics, Women's and Children's HospitalSusan M White - Genetic Health Services Victoria, Royal Children's HospitalPaul Thomas - Murdoch Children's Research Institute, Royal Children's HospitalJohn C Mulley - Department of Cytogenetics and Molecular Genetics, Centre for Medical Genetics, Women's and Children's Hospital Department of Molecular Biosciences, University of AdelaideKaren M Lower - Department of Cytogenetics and Molecular Genetics, Centre for Medical Genetics, Women's and Children's Hospital Department of Paediatrics, University of AdelaideGillian Turner - Hunter Genetics and University of NewcastleKatherine D Mathews - Department of Pediatrics and Neurology, University of Iowa Hospital and ClinicsSusan Schelley - Division of Medical Genetics, Department of Pediatrics, Stanford University School of MedicineConny M. A van Ravenswaay - Department of Human Genetics, University Medical CentreBronwyn A Kerr - Regional Genetic Service, St. Mary's HospitalMarie A Shaw - Department of Cytogenetics and Molecular Genetics, Centre for Medical Genetics, Women's and Children's HospitalH. Eugene Hoyme - Division of Medical Genetics, Department of Pediatrics, Stanford University School of MedicineMartin B Delatycki - Genetic Health Services Victoria, Royal Children's HospitalBarbara Cox - Department of Molecular and Medical Genetics, Oregon Health Sciences University
- Resource Type
- Journal article
- Publication Details
- Nature genetics, Vol.32(4), pp.661-665
- DOI
- 10.1038/ng1040
- PMID
- 12415272
- ISSN
- 1061-4036
- eISSN
- 1546-1718
- Language
- English
- Date published
- 12/2002
- Academic Unit
- Neurology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Neurology (Pediatrics)
- Record Identifier
- 9984020790502771
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