| Modification Notes |
Williams-Beuren syndrome (WBS) is a developmental disorder caused by a hemizygous microdeletion on chromosome 7q11.23. WBS is an autosomal dominant genetic condition that is characterized by abnormal physical, cognitive and behavioral traits. The physical traits associated with WBS include facial dysmorphology, vascular stenoses, growth deficiencies, dental anomalies and neurologic and musculoskeletal abnormalities. Mild retardation, weakness in visual-spatial skills, anxiety and a short attention span are typical cognitive and behavioral traits of WBS patients. The WBSCR22 gene is located within the WBS deletion and may contribute to the developmental symptoms found in WBS because of a loss of the encoded transcription factor. WBSCR22 (Williams-Beuren syndrome chromosomal region 22 protein), also known as HUSSY-3, PP3381 or WBMT, is a 281 amino acid nuclear methyltransferase that may act on DNA. WBSCR22 is highly expressed in kidney, heart and skeletal muscle and has lower levels of expression in lung, spleen, liver and testis. |