title: T-cell acute lymphoblastic leukemia in association with Börjeson-Forssman-Lehmann syndrome due to a mutation in PHF6.
abstract: Börjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked mental retardation syndrome that is caused by germline mutations in PHF6. We describe a 9-year-old male with BFLS, who developed T-cell acute lymphoblastic leukemia (T-ALL). The PHF6 gene is located on the X chromosome and encodes a protein with two PHD-type zinc finger domains and four nuclear localization sequences. Previously, overexpression of Phf6 was observed in murine T-cell lymphomas. Our observation indicates that BFLS may represent a cancer predisposition syndrome and that mutations of PHF6 contribute to T-ALL.
authors.affiliation: Division of Pediatric Hematology-Oncology, Children's National Medical Center, Washington, District of Columbia, USA.
authors.forename: Mwe Mwe
authors.initials: MM
authors.lastname: Chao
authors.forename: Matthew A
authors.initials: MA
authors.lastname: Todd
authors.forename: Udo
authors.initials: U
authors.lastname: Kontny
authors.forename: Katherine
authors.initials: K
authors.lastname: Neas
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Sullivan
authors.forename: Alasdair G
authors.initials: AG
authors.lastname: Hunter
authors.forename: David J
authors.initials: DJ
authors.lastname: Picketts
authors.forename: Christian P
authors.initials: CP
authors.lastname: Kratz
mesh_terms: D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D006801:Humans; D008297:Male; D038901:X-Linked Intellectual Disability / Q000235:genetics*; D009154:Mutation; D054218:Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*; D012097:Repressor Proteins
chemical_list: D002352:Carrier Proteins; C502542:PHF6 protein, human; D012097:Repressor Proteins
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