Toggle Main Menu Toggle Search

Open Access padlockePrints

Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome

Lookup NU author(s): Dr Anne Lampe


Full text for this publication is not currently held within this repository. Alternative links are provided below where available.


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 ears1. 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.

Publication metadata

Author(s): Lower KM, Turner G, Kerr BA, Mathews KD, Shaw MA, Gedeon AK, Schelley S, Hoyme HE, White SM, Delatycki MB, Lampe AK, Clayton-Smith J, Stewart H, Van Ravenswaayl CMA, De Vries BBA, Cox B, Grompe M, Ross S, Thomas P, Mulley JC, Gecz J

Publication type: Article

Publication status: Published

Journal: Nature Genetics

Year: 2002

Volume: 32

Issue: 4

Pages: 661-665

ISSN (print): 1061-4036

ISSN (electronic):

Publisher: Nature Publishing Group


DOI: 10.1038/ng1040

PubMed id: 12415272


Altmetrics provided by Altmetric