2002 Fiscal Year Final Research Report Summary
Gene analysis of Williams syndrome
| Project/Area Number |
12670776
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | KITASATO UNIVERSITY |
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Principal Investigator |
HIROTA Hamao Kitasato Univ.School of Medicine Research Associate, 医学部・小児科, 助手 (20208888)
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| Co-Investigator(Kenkyū-buntansha) |
HIRAISI Satoshi Kitasato Univ.School of Medicine Associate Professor, 医学部・小児科, 助教授 (80118835)
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| Project Period (FY) |
2000 – 2002
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| Keywords | Williams syndrome / Gene analysis / FISH |
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| Research Abstract |
Williams syndrome (WS) is characterizes by distinct facial change, mental retardation, abnormal cognitive profile and cardiovascular diseases. Molecular genetics studies have indicted that deletion at the 7q11.23 (1.5Mbp) causes WS. Main purpose of this study is to identify the relationship between specific genes and phenotyoic features of WS. Subjects were selected based on their deletion status determined by fluorescence in situ hybridization using a panel of 24 BACs and cosmids spanning the region commonly deleted and single gene analysis using Southern blotting. From the cohort of subjects, three had atypical deletions. Physical examinations and cognitive tests were administered to the three subjects and the results were compared to those from a cohort of typical WS subjects. Results : The molecular results indicate smaller deletions for each subject. In all three cases, typical Williams facies were absent and visual spatial abilities were above that of full deletion WS subjects, particularly in the qualitative aspects of visual spatial processing. Conclusions : Combining the molecular analysis with the cognitive results suggest that the genes GTF2IRD1 and GTF2I contribute to deficits on visual spatial functioning. These detail data was reported in Genetics in Medicine (2003. Volume5(4) July/August P311-321).
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