|| common in complete genomics
|?|| (A;A) (A;G) (G;G) ||28|
|Desc||SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 1; SHFLD1|
syndrome (or split hand and foot syndrome) is a developmental abnormality resulting in malformed or absent fingers and/or toes. There may be additional limb defects, such as absent tibias. Several different chromosomal regions have been implicated in this syndrome, among them
- rs1124110 in the GALNT2 gene; the risk allele is G (reported as C by 23andMe)
This variation is considered to be an autosomal dominant with low penetrance. In other words, the split hand defect will often skip generations, and most people who carry the risk variant of rs1124110 have normal hands and feet. There are known carriers of two risk alleles of rs1124110 who are normal, although other family members are affected. This pattern of inheritance indicates that more than one gene may be involved.
[PMID 17160898] Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1.