A Novel Missense Variant in PHF6 Gene Causing Börjeson-Forssman-Lehman Syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Molecular Neuroscience"
DOI: 10.1007/s12031-020-01560-5
Abstract: Börjeson-Forssman-Lehman Syndrome (BFLS) is a rare X-linked recessive syndrome characterized by intellectual disability, developmental delay, obesity, epilepsy, swelling of the subcutaneous tissues of the face, large but not deformed ears, hypogonadism, and gynecomastia. Pathogenic mutations… read more here.
Keywords: phf6; forssman lehman; phf6 gene; rjeson forssman ... See more keywords
Characterization of a Mouse Model of Börjeson-Forssman-Lehmann Syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Cell reports"
DOI: 10.1016/j.celrep.2018.10.043
Abstract: SUMMARY Mutations of the transcriptional regulator PHF6 cause the X-linked intellectual disability disorder Börjeson-Forssman-Lehmann syndrome (BFLS), but the pathogenesis of BFLS remains poorly understood. Here, we report a mouse model of BFLS, generated using a… read more here.
Keywords: forssman lehmann; lehmann syndrome; rjeson forssman; mouse model ... See more keywords
Transgenic mice with an R342X mutation in Phf6 display clinical features of Börjeson-Forssman-Lehmann Syndrome (BFLS).
Sign Up to like & getrecommendations! Published in 2021 at "Human molecular genetics"
DOI: 10.1093/hmg/ddab081
Abstract: The PHF6 mutation c.1024C > T; p.R342X, is a recurrent cause of Börjeson-Forssman-Lehmann Syndrome (BFLS), a neurodevelopmental disorder characterized by moderate-severe intellectual disability, truncal obesity, gynecomastia, hypogonadism, long tapering fingers, and large ears (MIM#301900). Here, we generated… read more here.
Keywords: r342x; mice; bfls; forssman lehmann ... See more keywords