Background of the antigen
Williams Syndrome (WS) is a developmental disorder characterized by cardiovascular problems, dysmorphic features, mental retardation or learning difficulties and several typical behavioral and neurological abnormalities. In Williams Syndrome patients, a heterozygous deletion is present in a region on chromosome 7q11.23 (the Williams Syndrome critical region), which spans approximately 20 genes. This region comprises the CYLN2 gene, which encodes the cytoplasmic linker protein of (CLIP-115). CLIP-115 is a microtubule-binding protein that is abundantly expressed in the brain. Mice with haploinsufficiency for the CYLN2 gene have features similar to that of WS, including mild growth deficiency, brain abnormalities, hippocampal dysfunction and particular deficits in motor coordination.
