Abstract：
CTNNB1 encodes for the β-catenin protein, a component of the cadherin adhesion complex, which regulates cell-cell adhesion and gene expression in the canonical Wnt signaling pathway. Mutations in CTNNB1 have been reported to be associated with cancer and mental disorders. Recently, loss-of-function mutations in CTNNB1 have been observed in patients with intellectual disability and some other clinical manifestations including motor and language delays, microcephaly, and mild visual defects. We report an 8-year-old Iranian girl with intellectual disability, hypotonia, impaired vision such as vitreomacular adhesion, motor delay, and speech delay. A novel, de novo nonsense mutation (c.1014G > A; p.Trp338Ter) in exon 7 of the CTNNB1 (NM_001904) gene was detected and confirmed by whole-exome sequencing and Sanger sequencing, respectively. This study helps to expand the growing list of loss-of-function mutations known in the CTNNB1 gene.
摘要：
CTNNB1编码β-连环蛋白，钙粘蛋白粘附复合物的一种成分，在经典的Wnt信号通路中调节细胞-细胞粘附和基因表达。据报道，CTNNB1突变与癌症和精神障碍有关。最近,在患有智力障碍和其他一些临床表现（包括运动和语言延迟）的患者中观察到CTNNB1的功能丧失突变，小头畸形,和轻微的视觉缺陷。我们报道了一个8岁的伊朗女孩，患有智力障碍，低张力,视力受损，如玻璃体黄斑粘连，电机延迟,说话延迟。一部小说,检测到CTNNB1（NM_001904）基因外显子7中的从头无义突变（c.1014G>A;p.Trp338Ter），并通过全外显子组测序和Sanger测序进行确认，分别。这项研究有助于扩大CTNNB1基因中已知的功能丧失突变的不断增长的列表。
