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Title
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Identification of copy number variants associated with BPES-like phenotypes
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Author
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Abstract
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| Blepharophimosis-Ptosis-Epicanthus inversus syndrome (BPES) is a well-characterized rare syndrome that includes an eyelid malformation associated with (type I) or without premature ovarian failure (type II). Patients with typical BPES have four major characteristics: blepharophimosis, ptosis, epicanthus inversus and telecanthus. Mutations in the FOXL2 gene, encoding a forkhead transcription factor, are responsible for the majority of both types of BPES. However, many patients with BPES-like features, i.e., having at least two major characteristics of BPES, have an unidentified cause. Here, we report on a group of 27 patients with BPES-like features, but without an identified genetic defect in the FOXL2 gene or flanking region. These patients were analyzed with whole-genome high-density arrays in order to identify copy number variants (CNVs) that might explain the BPES-like phenotype. In nine out of 27 patients (33%) CNVs not previously described as polymorphisms were detected. Four of these patients displayed psychomotor retardation as an additional clinical characteristic. In conclusion, we demonstrate that BPES-like phenotypes are frequently caused by CNVs, and we emphasize the importance of whole-genome copy number screening to identify the underlying genetic causes of these phenotypes. |
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Language
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English
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Source (journal)
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Human genetics. - Berlin
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Publication
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Berlin
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2008
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ISSN
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0340-6717
[print]
1432-1203
[online]
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DOI
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10.1007/S00439-008-0574-9
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Volume/pages
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124
:5
(2008)
, p. 489-498
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ISI
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000261178900006
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Full text (Publisher's DOI)
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