Vani Jain, Seow Hoong Foo, Stephen Chooi, Celia Moss, Richard Goodwin, Siren Berland, Angus J Clarke, Sally J Davies, Sian Corrin, Oliver Murch, Samantha Doyle, Gail E Graham, Lynn Greenhalgh, Susan E Holder, Diana Johnson, Ajith Kumar, Roger L Ladda, Susan Sell, Amber Begtrup, Sally A Lynch, Emma McCann, Rune Østern, Caroline Pottinger, Miranda Splitt, Andrew E Fry
Börjeson-Forssman-Lehmann syndrome (BFLS) is an X-linked intellectual disability syndrome caused by variants in the PHF6 gene. We ascertained 19 individuals from 15 families with likely pathogenic or pathogenic PHF6 variants (11 males and 8 females). One family had previously been reported. Six variants were novel. We analysed the clinical and genetic findings in our series and compared them with reported BFLS patients. Affected males had classic features of BFLS including intellectual disability, distinctive facies, large ears, gynaecomastia, hypogonadism and truncal obesity...
September 14, 2023: European Journal of Human Genetics: EJHG