Gene: PHF6

Alternate names for this Gene: BFLS|BORJ|CENP-31

Gene Summary: This gene is a member of the plant homeodomain (PHD)-like finger (PHF) family. It encodes a protein with two PHD-type zinc finger domains, indicating a potential role in transcriptional regulation, that localizes to the nucleolus. Mutations affecting the coding region of this gene or the splicing of the transcript have been associated with Borjeson-Forssman-Lehmann syndrome (BFLS), a disorder characterized by cognitive disability, epilepsy, hypogonadism, hypometabolism, obesity, swelling of subcutaneous tissue of the face, narrow palpebral fissures, and large ears. Alternate splicing results in multiple transcript variants, encoding different isoforms.

Gene is located in Chromosome: X

Location in Chromosome : Xq26.2

Description of this Gene: PHD finger protein 6

Type of Gene: protein-coding

rs104894917 in PHF6 gene and Borjeson-Forssman-Lehmann syndrome PMID 12415272 2002 Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.

PMID 23229552 2013 PHF6 regulates cell cycle progression by suppressing ribosomal RNA synthesis.

PMID 23906836 2013 A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

PMID 15994862 2006 Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient.

PMID 27633282 2016 Pathogenesis of Börjeson-Forssman-Lehmann syndrome: Insights from PHF6 function.

rs1556019107 in PHF6 gene and Dysmorphic features PMID 13871358 1962 An X-linked, recessively inherited syndrome characterized by grave mental deficiency, epilepsy, and endocrine disorder.

PMID 14756673 2004 The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.

PMID 27633282 2016 Pathogenesis of Börjeson-Forssman-Lehmann syndrome: Insights from PHF6 function.

PMID 24092917 2013 A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype.

PMID 27094817 2016 Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency.

PMID 12415272 2002 Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.

rs1556019107 in PHF6 gene and Multiple congenital anomalies PMID 13871358 1962 An X-linked, recessively inherited syndrome characterized by grave mental deficiency, epilepsy, and endocrine disorder.

PMID 24092917 2013 A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype.

PMID 27094817 2016 Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency.

PMID 14756673 2004 The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.

PMID 12415272 2002 Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.

PMID 27633282 2016 Pathogenesis of Börjeson-Forssman-Lehmann syndrome: Insights from PHF6 function.

rs1556019107 in PHF6 gene and Muscle hypotonia PMID 24092917 2013 A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype.

PMID 27633282 2016 Pathogenesis of Börjeson-Forssman-Lehmann syndrome: Insights from PHF6 function.

PMID 14756673 2004 The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.

PMID 27094817 2016 Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency.

PMID 12415272 2002 Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.

PMID 13871358 1962 An X-linked, recessively inherited syndrome characterized by grave mental deficiency, epilepsy, and endocrine disorder.