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Identification of copy number variants associated with BPES-like phenotypes

(2008) HUMAN GENETICS. 124(5). p.489-498
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Abstract
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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MLA
Gijsbers, ACJ, Barbara D’haene, Y Hilhorst-Hofstee, et al. “Identification of Copy Number Variants Associated with BPES-like Phenotypes.” HUMAN GENETICS 124.5 (2008): 489–498. Print.
APA
Gijsbers, A., D’haene, B., Hilhorst-Hofstee, Y., Mannens, M., Albrecht, B., Seidel, J., Witt, D., et al. (2008). Identification of copy number variants associated with BPES-like phenotypes. HUMAN GENETICS, 124(5), 489–498.
Chicago author-date
Gijsbers, ACJ, Barbara D’haene, Y Hilhorst-Hofstee, M Mannens, B Albrecht, J Seidel, DR Witt, et al. 2008. “Identification of Copy Number Variants Associated with BPES-like Phenotypes.” Human Genetics 124 (5): 489–498.
Chicago author-date (all authors)
Gijsbers, ACJ, Barbara D’haene, Y Hilhorst-Hofstee, M Mannens, B Albrecht, J Seidel, DR Witt, MK Maisenbacher, Bart Loeys, T van Essen, E Bakker, R Hennekam, MH Breuning, Elfride De Baere, and CAL Ruivenkamp. 2008. “Identification of Copy Number Variants Associated with BPES-like Phenotypes.” Human Genetics 124 (5): 489–498.
Vancouver
1.
Gijsbers A, D’haene B, Hilhorst-Hofstee Y, Mannens M, Albrecht B, Seidel J, et al. Identification of copy number variants associated with BPES-like phenotypes. HUMAN GENETICS. NEW YORK, NY 10013 USA: SPRINGER, 233 SPRING ST, NEW YORK, NY 10013 USA; 2008;124(5):489–98.
IEEE
[1]
A. Gijsbers et al., “Identification of copy number variants associated with BPES-like phenotypes,” HUMAN GENETICS, vol. 124, no. 5, pp. 489–498, 2008.
@article{533767,
  abstract     = {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.},
  author       = {Gijsbers, ACJ and D'haene, Barbara and Hilhorst-Hofstee, Y and Mannens, M and Albrecht, B and Seidel, J and Witt, DR and Maisenbacher, MK and Loeys, Bart and van Essen, T and Bakker, E and Hennekam, R and Breuning, MH and De Baere, Elfride and Ruivenkamp, CAL},
  issn         = {0340-6717},
  journal      = {HUMAN GENETICS},
  language     = {eng},
  number       = {5},
  pages        = {489--498},
  publisher    = {SPRINGER, 233 SPRING ST, NEW YORK, NY 10013 USA},
  title        = {Identification of copy number variants associated with BPES-like phenotypes},
  url          = {http://dx.doi.org/10.1007/s00439-008-0574-9},
  volume       = {124},
  year         = {2008},
}

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