Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6

Visootsak, Jeannie; Rosner, Beth; Dykens, Elisabeth M.; Schwartz, Charles; Hahn, Kimberly; White, Susan; Szeftel, Roxy; Graham, John M.

doi:10.1016/j.jpeds.2004.07.041

Cited by 22 publications

(15 citation statements)

References 14 publications

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“…mental retardation, prominent supraorbital ridges, deepset eyes, short and upturned nose, tapered fingers, hypermobility, short toes with syndactyly, and endocrine abnormalities (in our case hypogonadotrophic hypogonadism) [Visootsak et al, 2004;Carter et al, 2009] ( table 1 ). Unlike most male patients, our patient also had dental abnormalities, hearing loss, and normally sized ears.…”

Section: Discussionmentioning

confidence: 55%

<i>PHF6</i> Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females

et al. 2010

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In a 16-year-old girl with intellectual disability, irregular teeth, slight body asymmetry, and striated skin pigmentation, highly skewed X-inactivation increased the likelihood of an X-linked cause of her condition. Among these, prominent supraorbital ridges and hearing loss suggested a filaminopathy, but no filamin A mutation was found. The correct diagnosis, Borjeson-Forssman-Lehmann syndrome (BFLS, MIM#301900), was first made when a copy number array identified a de novo 15-kb deletion of the terminal 3 exons of the PHF6 gene. In retrospect, her phenotype resembled that of males with BFLS. Such deletions of PHF6 have not been reported previously. This might be because PHF6 mutations are rarely looked for in females since classical BFLS so far has been thought to be a male-specific syndrome, and large PHF6 deletions might be incompatible with male fetal survival. If this is the case, sporadic BFLS could be more frequent in females than in males.

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Section: Discussionmentioning

confidence: 55%

<i>PHF6</i> Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females

et al. 2010

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“…PHF6, located on the X chromosome, was first identified as the gene associated with human Börjeson-Forssman-Lehmann syndrome (OMIM 301900) (9,10), an X-linked mental retardation disorder characterized by moderate-to-severe mental disability, epilepsy, hypogonadism, and obesity (11,12). PHF6 was identified as a new X-linked tumor suppressor gene (13).…”

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confidence: 99%

Structural Basis of Plant Homeodomain Finger 6 (PHF6) Recognition by the Retinoblastoma Binding Protein 4 (RBBP4) Component of the Nucleosome Remodeling and Deacetylase (NuRD) Complex

Zhang

et al. 2015

Journal of Biological Chemistry

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Background:The PHF6 gene is mutated in patients with Börjeson-Forssman-Lehmann syndrome, T-cell acute lymphoblastic leukemia, and acute myeloid leukemia. The PHF6 protein is a newly identified interactor with the NuRD complex. Results: The complex structure of the NoLS region of PHF6 bound to RBBP4 was solved. Conclusion: By interacting with the RBBP4 component, PHF6 associates with the NuRD complex. Significance: Association with the NuRD complex implicates a role for PHF6 in chromatin structure modulation and gene regulation.

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“…PHF6, which encodes a protein with PHD-type zinc finger domains, was first identified as a gene associated with Börjeson-Forssman-Lehmann syndrome (BFLS), 2 an X-linked mental retardation disorder (1). BFLS patients have distinctive facial features and suffer from mental retardation, obesity, seizures, gynecomastia, and hypogonadism (2,3).…”

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confidence: 99%

“…BFLS patients have distinctive facial features and suffer from mental retardation, obesity, seizures, gynecomastia, and hypogonadism (2,3). To date, loss of function mutations and disruptions of the PHF6 gene are the only factors known to cause BFLS.…”

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confidence: 99%

PHF6 Regulates Cell Cycle Progression by Suppressing Ribosomal RNA Synthesis

Wang

Leung

Gong

et al. 2013

Journal of Biological Chemistry

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Background: PHF6 is mutated in T-cell acute lymphoblastic leukemias. Results: Knockdown of PHF6 impairs cell proliferation, arrests cells at G 2 /M phase, and increases rRNA transcription and DNA damage at the rDNA locus. Conclusion: PHF6 regulates cell cycle progression by suppressing ribosomal RNA synthesis. Significance: The tumor suppressor function of PHF6 may be linked with its roles in regulating rRNA synthesis and genome maintenance.

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Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6

Cited by 22 publications

References 14 publications

<i>PHF6</i> Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females

<i>PHF6</i> Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females

Structural Basis of Plant Homeodomain Finger 6 (PHF6) Recognition by the Retinoblastoma Binding Protein 4 (RBBP4) Component of the Nucleosome Remodeling and Deacetylase (NuRD) Complex

PHF6 Regulates Cell Cycle Progression by Suppressing Ribosomal RNA Synthesis

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