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Human Molecular Genetics Advance Access originally published online on July 1, 2003
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Human Molecular Genetics, 2003, Vol. 12, No. 16 1959-1971
DOI: 10.1093/hmg/ddg212
© 2003 Oxford University Press

A genomic rearrangement resulting in a tandem duplication is associated with split hand–split foot malformation 3 (SHFM3) at 10q24

Xavier J. de Mollerat1,2, Fiorella Gurrieri3, Chad T. Morgan1, Eugenio Sangiorgi3, David B. Everman1,2, Paola Gaspari3, Jeanne Amiel4, Michael J. Bamshad5, Robert Lyle6, Jean-Louis Blouin6, Judith E. Allanson7, Bernard Le Marec8, Melba Wilson9, Nancy E. Braverman10, Uppala Radhakrishna6, Celia Delozier-Blanchet6, Albert Abbott2, Vincent Elghouzzi4, Stylianos Antonarakis6, Roger E. Stevenson1,2, Arnold Munnich4, Giovanni Neri3 and Charles E. Schwartz1,2,*

1Center for Molecular Studies, J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC, USA, 2Department of Genetics and Biochemistry, Clemson University, Clemson, SC, USA, 3Istituto di Genetica Medica, Università Cattolica, Roma, Italy, 4Département de Génétique and Unité INSERM U-393 Hôpital Necker-Enfants Malades, Paris, France, 5Department of Genetics, School of Medicine, University of Utah, Salt Lake City, UT, USA, 6Division of Medical Genetics, University of Geneva Medical School, Geneva, Switzerland, 7Department of Genetics, Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada, 8Faculté de Médecine de Rennes I, Service de Pediatrie-Génétique Medicale, Rennes, France, 9Center for Human Genetics, Bar Harbor, ME, USA and 10John Hopkins University, School of Medicine, Baltimore, MD, USA

Received March 24, 2003; Accepted June 17, 2003

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 five loci have been identified in humans. Mutation analysis of the DACTYLIN gene, suspected to be responsible for SHFM3 in chromosome 10q24, was conducted in seven SHFM patients. We screened the coding region of DACTYLIN by single-strand conformation polymorphism and sequencing, and found no point mutations. However, Southern, pulsed field gel electrophoresis and dosage analyses demonstrated a complex rearrangement associated with a ~0.5 Mb tandem duplication in all the patients. The distal and proximal breakpoints were within an 80 and 130 kb region, respectively. This duplicated region contained a disrupted extra copy of the DACTYLIN gene and the entire LBX1 and ß-TRCP genes, known to be involved in limb development. The possible role of these genes in the SHFM3 phenotype is discussed.

* To whom correspondence should be addressed at: Center for Molecular Studies, J.C. Self Research Institute, One Gregor Mendel Circle, Greenwood, SC 29646, USA. Tel: +1 8649418140; Fax: +1 8643881707; Email: schwartz{at}ggc.org


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