Advanced search
1 file | 1.14 MB

Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients

(2013) GENETICS IN MEDICINE. 15(3). p.195-202
Author
Organization
Abstract
Purpose: Radial ray deficiencies are characterized by unilateral or bilateral absence of varying portions of the radius and thumb. Both isolated and syndromic forms have been described, and although for some of the syndromes the causal gene has been identified, many patients remain without a genetic diagnosis. Methods: In this study, a cohort of 54 patients with radial ray deficiencies was screened for genomic aberrations by molecular karyo-typing. Results: In 8 of 54 cases, an aberration was detected. Two unrelated patients inherited a 1q21.1 microduplication from a healthy parent, whereas in a third patient, a 16p13.11 microduplication was identified. Two other interesting microdeletions were detected: a 10q24.3 deletion at the split hand-foot malformation (SHFM3) locus and a 7p22.1 deletion including the RAC1 gene. Conclusion: The finding of these microduplications may just be coincidental or, alternatively, they may illustrate the broad phenotypic spectrum of these microduplications. Duplications in the 10q24.3 region result in split hand-foot malformations, and our observation indicates that deletions may cause radial ray defects. Finally, a candidate gene for radial ray deficiencies was detected in the 7p22.1 deletion. RAC1 plays an important role in the canonical Wnt pathway and conditional RAC1 knockout mice exhibit truncated-limb defects.
Keywords
FBXW4, array CGH, RAC1, radial ray deficiencies, 1q21.1 microduplication, HOLT-ORAM-SYNDROME, S-ANTIGEN GENE, ARRESTIN GENE, MUTATIONS, ASSOCIATION, DISEASE, DUPLICATIONS, INHERITANCE, REGULATOR, DELETIONS

Downloads

  • (...).pdf
    • full text
    • |
    • UGent only
    • |
    • PDF
    • |
    • 1.14 MB

Citation

Please use this url to cite or link to this publication:

Chicago
Vergult, Sarah, A Jeannette M Hoogeboom, Emilia K Bijlsma, Tom Sante, Eva Klopocki, Bram De Wilde, Marjolijn Jongmans, et al. 2013. “Complex Genetics of Radial Ray Deficiencies: Screening of a Cohort of 54 Patients.” Genetics in Medicine 15 (3): 195–202.
APA
Vergult, S., Hoogeboom, A. J. M., Bijlsma, E. K., Sante, T., Klopocki, E., De Wilde, B., Jongmans, M., et al. (2013). Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients. GENETICS IN MEDICINE, 15(3), 195–202.
Vancouver
1.
Vergult S, Hoogeboom AJM, Bijlsma EK, Sante T, Klopocki E, De Wilde B, et al. Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients. GENETICS IN MEDICINE. 2013;15(3):195–202.
MLA
Vergult, Sarah, A Jeannette M Hoogeboom, Emilia K Bijlsma, et al. “Complex Genetics of Radial Ray Deficiencies: Screening of a Cohort of 54 Patients.” GENETICS IN MEDICINE 15.3 (2013): 195–202. Print.
@article{3029659,
  abstract     = {Purpose: Radial ray deficiencies are characterized by unilateral or bilateral absence of varying portions of the radius and thumb. Both isolated and syndromic forms have been described, and although for some of the syndromes the causal gene has been identified, many patients remain without a genetic diagnosis. 
Methods: In this study, a cohort of 54 patients with radial ray deficiencies was screened for genomic aberrations by molecular karyo-typing. 
Results: In 8 of 54 cases, an aberration was detected. Two unrelated patients inherited a 1q21.1 microduplication from a healthy parent, whereas in a third patient, a 16p13.11 microduplication was identified. Two other interesting microdeletions were detected: a 10q24.3 deletion at the split hand-foot malformation (SHFM3) locus and a 7p22.1 deletion including the RAC1 gene. 
Conclusion: The finding of these microduplications may just be coincidental or, alternatively, they may illustrate the broad phenotypic spectrum of these microduplications. Duplications in the 10q24.3 region result in split hand-foot malformations, and our observation indicates that deletions may cause radial ray defects. Finally, a candidate gene for radial ray deficiencies was detected in the 7p22.1 deletion. RAC1 plays an important role in the canonical Wnt pathway and conditional RAC1 knockout mice exhibit truncated-limb defects.},
  author       = {Vergult, Sarah and Hoogeboom, A Jeannette M and Bijlsma, Emilia K and Sante, Tom and Klopocki, Eva and De Wilde, Bram and Jongmans, Marjolijn and Thiel, Christian  and Verheij, Joke BGM and Perez-Aytes, Antonio and Van Esch, Hilde and Kuechler, Alma and Barge-Schaapveld, Daniela QCM and Sznajer, Yves and Mortier, Geert and Menten, Bj{\"o}rn},
  issn         = {1098-3600},
  journal      = {GENETICS IN MEDICINE},
  language     = {eng},
  number       = {3},
  pages        = {195--202},
  title        = {Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients},
  url          = {http://dx.doi.org/10.1038/gim.2012.120},
  volume       = {15},
  year         = {2013},
}

Altmetric
View in Altmetric
Web of Science
Times cited: