Abstract：
Genes associated with specific neurocognitive phenotypes in Williams-Beuren syndrome are still controversially discussed. This study identified nine patients with atypical deletions out of 111 patients with Williams-Beuren syndrome; these deletions included seven smaller deletions and two larger deletions. One patient had normal neurodevelopment with a deletion of genes on the distal side of the Williams-Beuren syndrome chromosomal region, including GTF2I and GTF2IRD1. However, another patient retained these genes but showed neurodevelopmental abnormalities. By comparing the genotypes and phenotypes of patients with typical and atypical deletions and previous reports in the literature, we hypothesize that the BAZ1B, FZD9, and STX1A genes may play an important role in the neurodevelopment of patients with WBS.
摘要：
与Williams-Beuren综合征中特定神经认知表型相关的基因仍有争议。这项研究确定了111例Williams-Beuren综合征患者中的9例非典型缺失；这些缺失包括七个较小的缺失和两个较大的缺失。一名患者的神经发育正常，Williams-Beuren综合征染色体区域远端基因缺失，包括GTF2I和GTF2IRD1。然而,另一名患者保留了这些基因，但表现出神经发育异常。通过比较典型和不典型缺失患者的基因型和表型与文献中以前的报道,我们假设BAZ1B，FZD9和STX1A基因可能在WBS患者的神经发育中起重要作用。
