RT Journal Article
SR Electronic
T1 Refined mapping of a gene for split hand-split foot malformation (SHFM3) on chromosome 10q25.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 996
OP 1001
DO 10.1136/jmg.33.12.996
VO 33
IS 12
A1 A Raas-Rothschild
A1 S Manouvrier
A1 M Gonzales
A1 J P Farriaux
A1 S Lyonnet
A1 A Munnich
YR 1996
UL http://jmg.bmj.com/content/33/12/996.abstract
AB Split hand-split foot malformation (SHFM) is a genetically heterogeneous limb developmental defect characterised by the absence of digital rays and syndactyly of the remaining digits. Three disease loci have recently been mapped to chromosomes 7q21 (SHFM1), Xq26 (SHFM2), and 10q25 respectively (SHFM3). We report the mapping of SHFM3 to chromosome 10q25 in two large SHFM families of French ancestry (Zmax for the combined families = 6.62 at theta = 0 for marker AFM249wc5 at locus D10S222). Two recombinant events reduced the critical region to a 9 cM interval (D10S1709-D10S1663) encompassing several candidate genes including a paired box gene PAX2 (Zmax = 5.35 at theta = 0). The fibroblast growth factor 8 (FGF 8), the retinol binding protein (RBP4), the zinc finger protein (ZNF32), and the homeobox genes HMX2 and HOX11 are also good candidates by both their position and their function.