title: Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome.
abstract: Recently, de novo aberrations in PHF6 were identified in females with intellectual disability and with a distinct phenotype including a characteristic facial gestalt with bitemporal narrowing, prominent supraorbital ridges, synophrys, a short nose and dental anomalies, tapering fingers with brachytelephalangy, clinodactyly and hypoplastic nails, short toes with hypoplastic nails, and linear skin hyperpigmentation. In adolescent or older patients, this phenotype overlaps but is not identical with Borjeson-Forssman-Lehmann syndrome in males, caused by X-linked recessive mutations in PHF6. In younger girls there seems to be a striking phenotypic overlap with Coffin-Siris syndrome, which is characterized by intellectual disability, sparse hair and hypoplastic nails. This review will summarize and characterize the female phenotype caused by de novo aberrations in PHF6 and will discuss the overlapping and distinguishing features with Coffin-Siris syndrome.
authors.forename: Christiane
authors.initials: C
authors.lastname: Zweier
authors.forename: Olaf
authors.initials: O
authors.lastname: Rittinger
authors.forename: Ingrid
authors.initials: I
authors.lastname: Bader
authors.forename: Siren
authors.initials: S
authors.lastname: Berland
authors.forename: Trevor
authors.initials: T
authors.lastname: Cole
authors.forename: Franziska
authors.initials: F
authors.lastname: Degenhardt
authors.forename: Nataliya
authors.initials: N
authors.lastname: Di Donato
authors.forename: Luitgard
authors.initials: L
authors.lastname: Graul-Neumann
authors.forename: Juliane
authors.initials: J
authors.lastname: Hoyer
authors.forename: Sally Ann
authors.initials: SA
authors.lastname: Lynch
authors.forename: Ingrid
authors.initials: I
authors.lastname: Vlasak
authors.forename: Dagmar
authors.initials: D
authors.lastname: Wieczorek
mesh_terms: D000015:Abnormalities, Multiple / Q000209:etiology* / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D004827:Epilepsy / Q000209:etiology* / Q000235:genetics; D005145:Face / Q000002:abnormalities*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D056726:Genetic Association Studies; D006130:Growth Disorders / Q000209:etiology* / Q000235:genetics; D006228:Hand Deformities, Congenital / Q000209:etiology* / Q000235:genetics; D006801:Humans; D007006:Hypogonadism / Q000209:etiology* / Q000235:genetics; D008607:Intellectual Disability / Q000209:etiology* / Q000235:genetics; D038901:X-Linked Intellectual Disability / Q000209:etiology* / Q000235:genetics; D008844:Micrognathism / Q000209:etiology* / Q000235:genetics; D009264:Nails, Malformed / Q000235:genetics; D009333:Neck / Q000002:abnormalities*; D009765:Obesity / Q000209:etiology* / Q000235:genetics; D010375:Pedigree; D012097:Repressor Proteins; D055815:Young Adult
chemical_list: D002352:Carrier Proteins; C502542:PHF6 protein, human; D012097:Repressor Proteins
keywords: BFLS; Borjeson-Forssman-Lehmann syndrome; Coffin-Siris syndrome; PHF6