Abstract：
The CTNNB1 Syndrome is a rare neurodevelopmental disorder associated with developmental delay, intellectual disability, and delayed or absent speech. The aim of the present study is to systematically review the available data on the prevalence of clinical manifestations and to evaluate the correlation between phenotype and genotype in published cases of patients with CTNNB1 Syndrome. Studies were identified by systematic searches of four major databases. Information was collected on patients\' genetic mutations, prenatal and neonatal problems, head circumference, muscle tone, EEG and MRI results, dysmorphic features, eye abnormalities, early development, language and comprehension, behavioral characteristics, and additional clinical problems. In addition, the mutations were classified into five groups according to the severity of symptoms. The study showed wide genotypic and phenotypic variability in patients with CTNNB1 Syndrome. The most common moderate-severe phenotype manifested in facial dysmorphisms, microcephaly, various motor disabilities, language and cognitive impairments, and behavioral abnormalities (e.g., autistic-like or aggressive behavior). Nonsense and missense mutations occurring in exons 14 and 15 were classified in the normal clinical outcome category/group because they had presented an otherwise normal phenotype, except for eye abnormalities. A milder phenotype was also observed with missense and nonsense mutations in exon 13. The autosomal dominant CTNNB1 Syndrome encompasses a wide spectrum of clinical features, ranging from normal to severe. While mutations cannot be more generally categorized by location, it is generally observed that the C-terminal protein region (exons 13, 14, 15) correlates with a milder phenotype.
摘要：
CTNNB1综合征是一种罕见的与发育迟缓相关的神经发育障碍，智力残疾,和延迟或缺席演讲。本研究的目的是系统回顾有关临床表现患病率的可用数据，并评估已发表的CTNNB1综合征患者的表型和基因型之间的相关性。通过对四个主要数据库的系统搜索来确定研究。收集了患者基因突变的信息，产前和新生儿问题，头围,肌肉张力,脑电图和MRI结果，变形特征，眼睛异常,早期发展,语言和理解，行为特征，和其他临床问题。此外,根据症状的严重程度将突变分为5组.该研究显示了CTNNB1综合征患者的广泛基因型和表型变异性。最常见的中重度表型表现为面部畸形，小头畸形,各种运动障碍，语言和认知障碍，和行为异常(例如，自闭症样或攻击性行为)。外显子14和15中发生的无义和错义突变被归类为正常临床结果类别/组，因为它们在其他方面表现出正常表型，除了眼睛异常.还观察到较温和的表型,在外显子13中具有错义和无义突变。常染色体显性遗传CTNNB1综合征包括广泛的临床特征，从正常到严重。虽然突变不能更普遍地按位置分类，通常观察到C末端蛋白区(外显子13、14、15)与较温和的表型相关。
