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Transgenic mice with an R342X mutation in Phf6 display clinical features of Börjeson-Forssman-Lehmann Syndrome.

Human molecular genetics - 12 May 2021

Ahmed Raies, Sarwar Shihab, Hu Jinghua, Cardin Valérie, Qiu Lily R, Zapata Gerardo, Vandeleur Lucianne, Yan Keqin, Lerch Jason P, Corbett Mark A, Gecz Jozef, Picketts David J

Abstract excerpt

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 transgenic mice with the identical substitution (R342X mice) using CRISPR technology. We show that the...

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PMID: 33772537
DOI: 10.1093/hmg/ddab081
PMCID: PMC8120135

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