Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes

Split Hand-Foot Malformation (SHFM) is a congenital limb defect characterized by median cleft of the hands and/or feet due to absence/hypoplasia central rays. It may occur as part syndromic condition or an isolated malformation. The most common six genetic loci identified for this correlated SHFM1 and maps in 7q21q22 region. autosomal dominant transmission, incomplete penetrance variable expressivity. Associated features often include hearing loss, intellectual disability/developmental delay craniofacial abnormalities. Disruption DLX5/DLX6 genes, mapping within locus, now known be responsible phenotype. Through SNP array, we analyzed patient affected associated with deafness abnormality inner ear (incomplete partition type I); deletion 7q21, not involving DLX5/6 but including exons 15 17 DYNC1I1, act exonic enhancers (eExons) genes. We further demonstrated role DYNC1I1 eExons regulating expression means showing reduced genes through RT-PCR patient-derived lymphoblastoid cell line. Furthermore, our data review published cases do support hypothesis that are imprinted humans. This work example how disruption regulatory elements can malformations.