Hirota Hamao, Matsuoka Rumiko, Chen Xiao-Ning, Salandanan Lora S, Lincoln Alan, Rose Fredric E, Sunahara Mariko, Osawa Makiko, Bellugi Ursula, Korenberg Julie R
Department of Pediatric Cardiology, Tokyo Women's Medical University, Tokyo, Japan.
Genet Med. 2003 Jul-Aug;5(4):311-21. doi: 10.1097/01.GIM.0000076975.10224.67.
To identify the relationship between specific genes and phenotypic features of Williams syndrome.
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.
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.
Combining the molecular analysis with the cognitive results suggest that the genes GTF2IRD1 and GTF2I contribute to deficits on visual spatial functioning.
确定特定基因与威廉姆斯综合征表型特征之间的关系。
根据使用一组24个跨越常见缺失区域的细菌人工染色体（BAC）和黏粒进行荧光原位杂交确定的缺失状态以及使用Southern印迹法进行的单基因分析来选择受试者。在受试者队列中，有三人存在非典型缺失。对这三名受试者进行了体格检查和认知测试，并将结果与一组典型威廉姆斯综合征受试者的结果进行比较。
分子结果表明每个受试者的缺失较小。在所有三个案例中，均未出现典型的威廉姆斯面容，视觉空间能力高于完全缺失的威廉姆斯综合征受试者，尤其是在视觉空间处理的定性方面。
将分子分析与认知结果相结合表明，基因GTF2IRD1和GTF2I导致视觉空间功能缺陷。
