Division of Pediatric Hematology-Oncology, Children's National Medical Center, Washington, District of Columbia, USA.
Pediatr Blood Cancer. 2010 Oct;55(4):722-4. doi: 10.1002/pbc.22574.
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.
Börjeson-Forssman-Lehmann 综合征（BFLS）是一种罕见的 X 连锁智力障碍综合征，由 PHF6 种系突变引起。我们描述了一名 9 岁男性 BFLS 患者，他患有 T 细胞急性淋巴细胞白血病（T-ALL）。PHF6 基因位于 X 染色体上，编码具有两个 PHD 型锌指结构域和四个核定位序列的蛋白质。先前在小鼠 T 细胞淋巴瘤中观察到 Phf6 的过表达。我们的观察表明，BFLS 可能代表一种癌症易感性综合征，PHF6 的突变导致 T-ALL。
