Atypical deletion of Williams–Beuren syndrome reveals the mechanism of neurodevelopmental disorders

• DOI: 10.1186/s12920-022-01227-7
• Publication Date: 2022-04-04T14:02:45Z
• Authors: Jianrong Zhou; Ying Zheng; Guiying Liang; Xiaoli Xu; Jian Liu; Shaoxian Chen; Tongkai Ge; Pengju Wen; Yong Zhang; Xiaoqing Liu; Jian Zhuang; Yueheng Wu; Jimei Chen
• Keywords: Williams Syndrome; 0301 basic medicine; 0303 health sciences; Williams–Beuren syndrome; Genotype; Genotype–phenotype correlation; Research; Intellectual disability; Syntaxin 1; Growth restriction; QH426-470; RC31-1245; Frizzled Receptors; 03 medical and health sciences; Atypical deletion; Phenotype; Neurodevelopmental Disorders; Genetics; Humans; Internal medicine; Transcription Factors

AbstractGenes 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, includingGTF2IandGTF2IRD1. 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 theBAZ1B,FZD9, andSTX1Agenes may play an important role in the neurodevelopment of patients with WBS.