| Budget Amount *help |
¥3,380,000 (Direct Cost: ¥2,600,000、Indirect Cost: ¥780,000)
Fiscal Year 2010: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2009: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
|
|---|
| Research Abstract |
Williams syndrome (WS) is a genomic disorder caused by a hemizygous deletion of contiguous genes on chromosome 7q11.23. WS clinically shows cardiovascular abnormalities, typical facial features, and cognitive dysfunction. Most patients with WS have similar deletions of approximately 1.4 to 1.6Mb at WS region, however a few exceptional cases with larger deletions have been reported. The aim of this study was to investigate the individual contribution of genes to WS specific neurocognitive profile by genotype-phenotype correlations analysis. An array comparative genomic hybridization (array CGH) analysis revealed that one patient had a three times larger deletion (4.2 Mb) than the typical deletion at WS region. The developmental quotient of the patients with the 4.2 Mb deletion was significantly lower (DQ : 14) than those with the typical deletions (mean : 48.8). Deleted genes in the 4.2 Mb deletion include HSPB1 coding Heat Shock Protein 27. Severe developmental delay observed in the presently reported patient might be partly accounted for by a hemizygous deletion of HSPB1 in that HSPB1 helps protect neural cells under various adverse conditions. Array CGH analysis for detection of deleted genes may allow us to further estimate the severity of phenotype.
|
