Title: Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients
Authors: Vergult, Sarah ×
Hoogeboom, A Jeannette M
Bijlsma, Emilia K
Sante, Tom
Klopocki, Eva
De Wilde, Bram
Jongmans, Marjolijn
Thiel, Christian
Verheij, Joke Bgm
Perez-Aytes, Antonio
Van Esch, Hilde
Kuechler, Alma
Barge-Schaapveld, Daniela Qcm
Sznajer, Yves
Mortier, Geert
Menten, Björn #
Issue Date: Mar-2013
Publisher: Williams & Wilkins
Series Title: Genetics in Medicine vol:15 issue:3 pages:195-202
Article number: 10.1038/gim.2012.120
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 karyotyping.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.Genet Med advance online publication 20 September 2012Genetics in Medicine (2012); doi:10.1038/gim.2012.120.
ISSN: 1098-3600
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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