Börjeson-Forssman-Lehmann Syndrome and PHF6
- DOI:
- 10.1093/med/9780199934522.003.0139
Börjeson-Forssman-Lehmann syndrome (BFLS) is an X-linked disorder characterised by mild to severe ID; developmental defects such as coarse facial features, large fleshy ears, short tapering fingers short stature and foreshortened toes; and defects suggestive of endocrine dysfunction such as gynecomastia, hypopituitarism, hypogonadism and obesity. BFLS is caused by mutations in the plant homeodomain (PHD) finger protein 6 (PHF6) gene. Somatic mutation of PHF6 is strongly associated with a significant fraction of childhood and adult T-cell acute lymphoblastic leukaemia (T-ALL), acute myeloid leukaemia (AML) and with other cancers to a lesser extent.
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