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Letter

Nature Genetics 32, 661–665 (1 December 2002) | doi:10.1038/ng1040

Mutations in PHF6 are associated with B|[ouml]|rjeson|[ndash]|Forssman|[ndash]|Lehmann syndrome

Karen M. Lower , Gillian Turner , Bronwyn A. Kerr , Katherine D. Mathews , Marie A. Shaw , |[Aacute]|gi 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 & Jozef G|[eacute]|cz

B|[ouml]|rjeson–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).