Human Molecular Genetics Advance Access published online on July 1, 2003
Human Molecular Genetics, doi:10.1093/hmg/ddg212
© 2003 by Oxford University Press
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1 Center for Molecular Studies, J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina; Department of Genetics and Biochemistry, Clemson University, Clemson, South Carolina
* To whom correspondence should be addressed. E-mail: schwartz{at}ggc.org.
Split Hand-Split Foot Malformation (SHFM) is characterized by hypoplasia/aplasia of the central digits with fusion of the remaining digits. SHFM is usually an autosomal dominant condition and at least 5 loci have been identified in humans. Mutation analysis of the DACTYLIN gene, suspected to be responsible for SHFM3 in chromosome 10q24, was conducted in 7 SHFM patients. We screened the coding region of DACTYLIN by SSCP and sequencing, and found no point mutations. However, Southern, PFGE and dosage analyses demonstrated a complex rearrangement associated with a
Article
A Genomic Rearrangement Resulting in a Tandem Duplication is Associated with Split Hand-Split Foot Malformation 3 (SHFM3) at 10q24
2 Istituto di Genetica Medica, Università Cattolica, Roma, Italy
3 Center for Molecular Studies, J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina
4 Département de Génétique and Unité INSERM U-393 Hôpital Necker-Enfants Malades, Paris, France
5 Department of Genetics, School of Medicine, University of Utah, Salt Lake City, Utah
6 Division of Medical Genetics, University of Geneva Medical School, Geneva, Switzerland
7 Department of Genetics, Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada
8 Faculté de Médecine de Rennes I, Service de Pediatrie- Génétique Medicale, Rennes, France
9 Center for Human Genetics, Bar Harbor, Maine
10 John Hopkins University, School of Medicine, Baltimore, Maryland
11 Department of Genetics and Biochemistry, Clemson University, Clemson, South Carolina
12 Center for Molecular Studies, J.C. Self Research Institute of Human Genetics, One Gregor Mendel Circle, Greenwood Genetic Center, Greenwood, South Carolina 29646; Department of Genetics and Biochemistry, Clemson University, Clemson, South Carolina
Abstract 
0.5 Mb tandem duplication in all the patients. The distal and proximal breakpoints were within a 80 kb and 130 kb region, respectively. This duplicated region contained a disrupted extra copy of the DACTYLIN gene and the entire LBX1 and 
-TRCP genes, known to be involved in limb development. The possible role of these genes in the SHFM3 phenotype is discussed.
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