Distinct phenotype of PHF6 deletions in females

N. Di Donato*, B. Isidor, S. Lopez Cazaux, C. Le Caignec, B. Klink, C. Kraus, E. Schrock, K. Hackmann

*Corresponding author for this work

Research output: Contribution to journalArticleResearchpeer-review

17 Citations (Scopus)


We report on two female patients carrying small overlapping Xq26.2 deletions of 100kb and 270kb involving the PHF6 gene. Mutations in PHF6 have been reported in individuals with Borjeson-Forssman-Lehmann syndrome, a condition present almost exclusively in males. Two very recent papers revealed de novo PHF6 defects in seven female patients with intellectual disability and a phenotype resembling Coffin-Siris syndrome (sparse hair, bitemporal narrowing, arched eyebrows, synophrys, high nasal root, bulbous nasal tip, marked clinodactyly with the hypoplastic terminal phalanges of the fifth fingers and cutaneous syndactyly of the toes, Blaschkoid linear skin hyperpigmentation, dental anomalies and occasional major malformations). The clinical presentation of these patients overlaps completely with our first patient, who carries a germline deletion involving PHF6. The second patient has a mosaic deletion and presented with a very mild phenotype of PHF6 loss in females. Our report confirms that PHF6 loss in females results in a recognizable phenotype overlapping with Coffin-Siris syndrome and distinct from Borjeson-Forssman-Lehmann syndrome. We expand the clinical spectrum and provide the first summary of the recommended medical evaluation.

Original languageEnglish
Pages (from-to)85-89
Number of pages5
JournalEuropean Journal of Medical Genetics
Issue number2-3
Publication statusPublished - Feb 2014
Externally publishedYes


  • Borjeson-Forssman-Lehmann syndrome
  • Coffin-Siris syndrome
  • Microdeletion Xq26
  • PHF6 gene


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