Borjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.

ABSTRACT: 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. Carrier female relatives of affected males were unaffected or had only mild symptoms. The phenotype of affected females with de novo variants overlapped with the males but included linear skin hyperpigmentation and a

SUBMITTER: Jain V 

PROVIDER: S-EPMC10689765 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature