PDF(Pubmed)
Abstract：
UNASSIGNED: Autism spectrum disorders (ASDs) are a group of developmental disorders characterized by deficits in social communicative skills and the occurrence of repetitive and/or stereotyped behaviors. Coffin-Siris syndrome (CSS) is classically characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and additional digits, developmental or cognitive delay of varying degrees, distinctive facial features, hypotonia, hirsutism/hypertrichosis, and sparse scalp hair. In this study, we present a detailed description of autistic traits in a boy diagnosed with CSS and further discuss their genetic backgrounds.
UNASSIGNED: An 8-year-old boy with ASD, congenital anomalies, and neurological problems had been diagnosed with Coffin-Siris syndrome after genetic testing. Genetic testing revealed a heterozygous de novo pathogenic variant (class 5) c.1638_1647del in the ARID1B gene that is causative of Coffin-Siris syndrome but also other intellectual disability (ID)-related disorders, including autism. Tests that preceded the diagnoses, as well as congenital anomalies and developmental issues, were further described in an attempt to better present his phenotype.
UNASSIGNED: Both autism and ARID1B-related disorders are on a spectrum. This report points out the importance and necessity of further research regarding the genetic backgrounds of these disorders to understand their complex etiology.
UNASSIGNED: An 8-year-old boy with ASD, congenital anomalies, and neurological problems had been diagnosed with Coffin-Siris syndrome after genetic testing. Genetic testing revealed a heterozygous de novo pathogenic variant (class 5) c.1638_1647del in the ARID1B gene that is causative of Coffin-Siris syndrome but also other intellectual disability (ID)-related disorders, including autism. Tests that preceded the diagnoses, as well as congenital anomalies and developmental issues, were further described in an attempt to better present his phenotype.
UNASSIGNED: Both autism and ARID1B-related disorders are on a spectrum. This report points out the importance and necessity of further research regarding the genetic backgrounds of these disorders to understand their complex etiology.
摘要：
■自闭症谱系障碍（ASDs）是一组发育障碍，其特征是社交交际技能不足以及重复和/或刻板行为的发生。Coffin-Siris综合征（CSS）的典型特征是第五指骨远端指骨或指甲的发育不全或发育不全，不同程度的发育或认知延迟，独特的面部特征，低张力,多毛症/多毛症，和稀疏的头皮头发。在这项研究中,我们详细描述了一名诊断为CSS的男孩的自闭症特征，并进一步讨论了他们的遗传背景。
■一个患有ASD的8岁男孩,先天性异常,在基因检测后，神经系统问题被诊断为Coffin-Siris综合征。遗传检测揭示了ARID1B基因中的杂合的从头致病变异（5类）c.1638_1647del，该变异是Coffin-Siris综合征的病因，也是其他智力障碍（ID）相关疾病的病因，包括自闭症。诊断之前的测试，以及先天性异常和发育问题，进一步描述，试图更好地呈现他的表型。
■自闭症和与ARID1B相关的疾病都在一个范围内。本报告指出了进一步研究这些疾病的遗传背景以了解其复杂病因的重要性和必要性。
■一个患有ASD的8岁男孩,先天性异常,在基因检测后，神经系统问题被诊断为Coffin-Siris综合征。遗传检测揭示了ARID1B基因中的杂合的从头致病变异（5类）c.1638_1647del，该变异是Coffin-Siris综合征的病因，也是其他智力障碍（ID）相关疾病的病因，包括自闭症。诊断之前的测试，以及先天性异常和发育问题，进一步描述，试图更好地呈现他的表型。
■自闭症和与ARID1B相关的疾病都在一个范围内。本报告指出了进一步研究这些疾病的遗传背景以了解其复杂病因的重要性和必要性。
