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.
■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。