A split hand-split foot (SHFM3) gene is located at 10q24-->25.
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
F
Institute of Medical Genetics, Catholic University of Rome, Italy.
Prinos
P
P
Tackels
D
D
Kilpatrick
M W
MW
Allanson
J
J
Genuardi
M
M
Vuckov
A
A
Nanni
L
L
Sangiorgi
E
E
Garofalo
G
G
Nunes
M E
ME
Neri
G
G
Schwartz
C
C
Tsipouras
P
P
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