Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6.

ABSTRACT: While inherited hemizygous variants in PHF6 cause X-linked recessive Borjeson-Forssman-Lehmann syndrome (BFLS) in males, de novo heterozygous variants in females are associated with an overlapping but distinct phenotype, including moderate to severe intellectual disability, characteristic facial dysmorphism, dental, finger and toe anomalies, and linear skin pigmentation. By personal communication with colleagues, we assembled 11 additional females with BFLS due to variants in PHF6. We confirm the distinct phenotype to include variable intellectual disability, recognizable facial dysmorphism and other anomalies. We observed skewed X-inactivation in blood and streaky skin pigmentation compatible with functional mosaicism. Variants occurred de novo in 10 individuals, of whom one was only mild

SUBMITTER: Gerber CB 

PROVIDER: S-EPMC9543785 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature