TY - JOUR
T1 - Evidence for an additional locus for split hand/foot malformation in chromosome region 8q21.11-q22.3
AU - Gurnett, Christina A.
AU - Dobbs, Matthew B.
AU - Nordsieck, Eric J.
AU - Keppel, Cassie
AU - Goldfarb, Charles A.
AU - Morcuende, Jose A.
AU - Bowcock, Anne M.
PY - 2006/8/15
Y1 - 2006/8/15
N2 - We identified a family where five members had nonsyndromic ectrodactyly. There were three known instances of nonpenetrance. Although four individuals had unilateral cleft hand, one individual had more severe, bilateral and asymmetric absence of the digits. None had foot abnormalities. After exclusion of linkage of SHFM in this family to five known loci, a genome wide scan was performed with DNA from 5 affected and 15 unaffected members of this family. Suggestive evidence for linkage of ectrodactyly to 8q was obtained on the basis of a maximum LOD score of 2.54 at theta (max) = 0 with GAAT1A4. Critical recombinants place the ectrodactyly gene in this family in a 16 cM (21 Mb) interval between D8S1143 and D8S556. Mutational analysis of two candidate genes (FZD6, GDF6) did not identify any mutations in affected members of this family. Our data indicate further genetic heterogeneity for ectrodactyly and suggest the presence of an additional SHFM locus in chromosome region 8q21.11-q22.3.
AB - We identified a family where five members had nonsyndromic ectrodactyly. There were three known instances of nonpenetrance. Although four individuals had unilateral cleft hand, one individual had more severe, bilateral and asymmetric absence of the digits. None had foot abnormalities. After exclusion of linkage of SHFM in this family to five known loci, a genome wide scan was performed with DNA from 5 affected and 15 unaffected members of this family. Suggestive evidence for linkage of ectrodactyly to 8q was obtained on the basis of a maximum LOD score of 2.54 at theta (max) = 0 with GAAT1A4. Critical recombinants place the ectrodactyly gene in this family in a 16 cM (21 Mb) interval between D8S1143 and D8S556. Mutational analysis of two candidate genes (FZD6, GDF6) did not identify any mutations in affected members of this family. Our data indicate further genetic heterogeneity for ectrodactyly and suggest the presence of an additional SHFM locus in chromosome region 8q21.11-q22.3.
KW - Linkage analysis
KW - Split hand
KW - Upper limb malformation
UR - http://www.scopus.com/inward/record.url?scp=33746618340&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.31375
DO - 10.1002/ajmg.a.31375
M3 - Article
C2 - 16838310
AN - SCOPUS:33746618340
VL - 140
SP - 1744
EP - 1748
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 16
ER -