| PHF6 Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females. | |
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MedLine Citation:
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PMID: 22190899 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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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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Authors:
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S Berland; K Alme; A Brendehaug; G Houge; R Hovland |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-7-19 |
Journal Detail:
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Title: Molecular syndromology Volume: 1 ISSN: 1661-8777 ISO Abbreviation: - Publication Date: 2011 Sep |
Date Detail:
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Created Date: 2011-12-22 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101525192 Medline TA: Mol Syndromol Country: - |
Other Details:
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Languages: ENG Pagination: 294-300 Citation Subset: - |
Affiliation:
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Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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