Split hand/foot malformation (SHFM) is a congenital heterogeneous disorder with prominent limb deficiency. Seven loci have been identified to associate with SHFM, including SHFM1 to SHFM6 and SHFM/SHFLD. SHFM3 is an autosomal dominant disease, of which the pathogenesis is closely related to the genomic rearrangements at 10q24.We described two Chinese patients with the SHFM3 phenotype by high-resolution SNP array technology. We detected a 534kb microduplication at 10q24 encompassing TLX1, LBX1, BTRC and POLL, and a 600kb duplication with TLX1, LBX1, BTRC, POLL, and FBXW4 located. Sequencing analysis did not find any pathogenic mutations in genes within the region detected by SNP Array Analysis. Our findings may offer more evidence for the further mechanism research of limb-specific congenital disease and will give more precise diagnosis to SHFM3 patients.
Keywords: SNP array; Split hand/foot malformation type 3; copy number variation.
© 2017 by the Association of Clinical Scientists, Inc.