title: A split hand-split foot (SHFM3) gene is located at 10q24-->25.
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.
authors.affiliation: Institute of Medical Genetics, Catholic University of Rome, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Gurrieri
authors.forename: P
authors.initials: P
authors.lastname: Prinos
authors.forename: D
authors.initials: D
authors.lastname: Tackels
authors.forename: M W
authors.initials: MW
authors.lastname: Kilpatrick
authors.forename: J
authors.initials: J
authors.lastname: Allanson
authors.forename: M
authors.initials: M
authors.lastname: Genuardi
authors.forename: A
authors.initials: A
authors.lastname: Vuckov
authors.forename: L
authors.initials: L
authors.lastname: Nanni
authors.forename: E
authors.initials: E
authors.lastname: Sangiorgi
authors.forename: G
authors.initials: G
authors.lastname: Garofalo
authors.forename: M E
authors.initials: ME
authors.lastname: Nunes
authors.forename: G
authors.initials: G
authors.lastname: Neri
authors.forename: C
authors.initials: C
authors.lastname: Schwartz
authors.forename: P
authors.initials: P
authors.lastname: Tsipouras
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002874:Chromosome Mapping; D002879:Chromosomes, Human, Pair 10; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree