The split hand-split foot (SHSF) malformation affects the central rays of the upper and lower limbs. It presents either as an isolated defect or in association with other skeletal or non-skeletal abnormalities. An autosomal SHSF locus (SHFM1) was previously mapped to 7q22.1. We report the mapping of a second autosomal SHSF locus to 10q24-->25. A panel of families was tested with 17 marker loci mapped to the 10q24-->25 region. Maximum lod scores of 3.73, 4.33 and 4.33 at a recombination fraction of zero were obtained for the loci D10S198, PAX2 and D10S1239, respectively. An 19 cM critical region could be defined by haplotype analysis and several genes with a potential role in limb morphogenesis are located in this region. Heterogeneity testing indicates the existence of at least one additional autosomal SHSF locus.
Gurrieri, F., Prinos, P., Tackels, D., Kilpatrick, M., Allanson, J., Genuardi, M., Vuckov, A., Sangiorgi, E., Garofalo, G., Nunes, M., Neri, G., Schwartz, C., Tsipouras, P., Nanni, L., A split hand-split foot (SHFM3) gene is located at 10q24-->25, <<AMERICAN JOURNAL OF MEDICAL GENETICS>>, 1996; 62 (4): 427-436. [doi:10.1002/(SICI)1096-8628(19960424)62:4<427::AID-AJMG16>3.0.CO;2-Q] [http://hdl.handle.net/10807/27238]
A split hand-split foot (SHFM3) gene is located at 10q24-->25
Gurrieri, Fiorella;Genuardi, Maurizio;Sangiorgi, Eugenio;Neri, Giovanni;
1996
Abstract
The split hand-split foot (SHSF) malformation affects the central rays of the upper and lower limbs. It presents either as an isolated defect or in association with other skeletal or non-skeletal abnormalities. An autosomal SHSF locus (SHFM1) was previously mapped to 7q22.1. We report the mapping of a second autosomal SHSF locus to 10q24-->25. A panel of families was tested with 17 marker loci mapped to the 10q24-->25 region. Maximum lod scores of 3.73, 4.33 and 4.33 at a recombination fraction of zero were obtained for the loci D10S198, PAX2 and D10S1239, respectively. An 19 cM critical region could be defined by haplotype analysis and several genes with a potential role in limb morphogenesis are located in this region. Heterogeneity testing indicates the existence of at least one additional autosomal SHSF locus.
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