Borjeson-Forssman-Lehmann Syndrome

Common Name(s)

Borjeson-Forssman-Lehmann Syndrome, Mental deficiency-epilepsy-endocrine disorders

Borjeson-Forssman-Lehmann syndrome (BFLS) is a genetic condition characterized by intellectual disability, obesity, seizures, hypogonadism, developmental delay and distinctive facial features. These symptoms are variable, even among members of the same family. BFLS is caused by mutations in the PHF6 gene on the X chromosome. This mutation is usually transmitted as an X-linked recessive trait, which means the disorder is fully expressed predominantly in males.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Borjeson-Forssman-Lehmann Syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Borjeson-Forssman-Lehmann Syndrome" returned 6 free, full-text research articles on human participants. First 3 results:

T-cell acute lymphoblastic leukemia in association with Börjeson-Forssman-Lehmann syndrome due to a mutation in PHF6.
 

Author(s): Mwe Mwe Chao, Matthew A Todd, Udo Kontny, Katherine Neas, Michael J Sullivan, Alasdair G Hunter, David J Picketts, Christian P Kratz

Journal: Pediatr Blood Cancer. 2010 Oct;55(4):722-4.

 

Börjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked mental retardation syndrome that is caused by germline mutations in PHF6. We describe a 9-year-old male with BFLS, who developed T-cell acute lymphoblastic leukemia (T-ALL). The PHF6 gene is located on the X chromosome ...

Last Updated: 31 Aug 2010

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

Author(s): J Crawford, K M Lower, R C M Hennekam, H Van Esch, A Mégarbané, S A Lynch, G Turner, J Gécz

Journal: J. Med. Genet.. 2006 Mar;43(3):238-43.

 

Börjeson-Forssman-Lehmann syndrome (BFLS; MIM 301900) is an infrequently described X linked disorder caused by mutations in PHF6, a novel zinc finger gene of unknown function.

Last Updated: 9 Mar 2006

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A novel PHF6 mutation results in enhanced exon skipping and mild Börjeson-Forssman-Lehmann syndrome.
 

Author(s): D Vallée, E Chevrier, G E Graham, M A Lazzaro, P A Lavigne, A G Hunter, D J Picketts

Journal: J. Med. Genet.. 2004 Oct;41(10):778-83.

 

Last Updated: 6 Oct 2004

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Reviews from the PubMed Database

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The terms "Borjeson-Forssman-Lehmann Syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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