Title
Complex genetics of radial ray deficiencies : screening of a cohort of 54 patients Complex genetics of radial ray deficiencies : screening of a cohort of 54 patients
Author
Faculty/Department
Faculty of Medicine and Health Sciences
Publication type
article
Publication
Philadelphia, Pa. ,
Subject
Human medicine
Source (journal)
Genetics in medicine. - Philadelphia, Pa.
Volume/pages
15(2013) :3 , p. 195-202
ISSN
1098-3600
1530-0366
ISI
000315747000006
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Affiliation
University of Antwerp
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. Genet Med 2013:15(3):195-202
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