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© 1994 Oxford University Press

RESEARCH-ARTICLE

Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly

Stephen W.Scherer1,2, Parvoneh Poorka]3, Hillary Massa4, Sylvia Soder2, Todd Allen2, Mark Nunes3, Dorrit Geshurl3, Eddy Wong2, Elena Bellonl2, Stephen Little2, Lumlng Zhou2, Donna Becker3, Juha Kere5, Jaakko Ignatius6, Norio Nllkawa7, Yoshlmitsu Fukushlma8, Tomonobu Hasegawa9, Jean Weissenbach10, Edoardo Boncinelli, Barbara Trask4, Lap-Chee Tsui1,2 and James P.Evans3

1Department of Molecular and Medical Genetics, University of Toronto Ontario M5S 1A8, 2Department of Genetics, Research Institute, The Hospital for Sick Children Toronto, Ontario M5G 1X8, Canada, 3Division of Medical Genetics, Department of Medicine, RG-25, University of Washington Seattle, WA 98195, 4Department of Molecular Biotechnology, University of Washington Seattle, WA, USA, 5Department of Medical Genetics, University of Helsinki, 6Department of Medical Genetics, Vaestolirtto, Finnish Population and Family Welfare Federation Helsinki, Rnland, 7Department of Human Genetics, Nagasaki University School of Medicine Nagasaki, 8Division of Medical Genetics, Saitama Children's Medical Center Saitama, 9Tokyo Metropolitan Kiyose Children's Hospital Tokyo, Japan, 10lstituto Scientjfico H San Raffade, DIBIT, 20132 Mitano Italy

Received April 8, 1994; Accepted May 30, 1994

Split hand/split foot (ectrodactyly; SHSF) Is a human developmental malformation characterized by missing digits and claw-like extremities. An autosomal dominant form of this disorder has been mapped to 7q21.3 - q22.1; the locus has been designated SHFD1. We have constructed a physical map consisting of overlapping yeast artificial chromosome clones for the entire region. Somatic cell hybrid and fluorescent in situ hybridization analyses were used to define SHSF-assoclated chromosomal rearrangements In twelve patients. An SHFD1 critical Interval of 1.5 Mb was established by analysis of five patients with deletions. Translocatlon or Inversion breakpoints found In six patients were mapped within 700 kb of each other in the critical region. Of note Is that eight of the patients analyzed (67%) are in fact classified as having syndromic ectrodactyly. Thus, these mapping data establish a relationship between simple split hand/split foot and this more complex group of human birth defects. Finally, we have mapped DLX5, a member of the Distal-less homeobox gene family, to the SHFD1 critical interval.


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