CHARGE综合征,以一组独特的临床特征为特征,主要与CHD7基因突变有关。最初由特定的临床标准定义,包括结肠瘤,心脏缺陷,后鼻孔闭锁,延迟生长,和耳朵异常,自CHD7的鉴定以来,CHARGE综合征的诊断范围有所扩大。该基因的变异体表现出相当大的表型变异性,导致采用术语“CHD7障碍”来涵盖更广泛的相关症状。最近的研究已经在具有孤独症谱系障碍或促性腺激素释放激素缺乏等孤立特征的个体中确定了CHD7变异。在这项研究中,我们介绍了来自两个不同家庭的三个病例,这些病例表现为CHD7变体的主要表现。我们讨论了在CHD7相关疾病中观察到的不断扩大的表型变异性,强调在非综合征性听力损失病例中考虑CHD7的重要性,尤其是在MRI上伴有内耳畸形时。此外,我们强调对CHD7变异个体进行遗传咨询和综合临床评估的必要性,以确保相关健康问题得到适当管理.
CHARGE syndrome, characterized by a distinct set of clinical features, has been linked primarily to mutations in the CHD7 gene. Initially defined by specific clinical criteria, including coloboma, heart defects, choanal atresia, delayed growth, and ear anomalies, CHARGE syndrome\'s diagnostic spectrum has broadened since the identification of CHD7. Variants in this gene exhibit considerable phenotypic variability, leading to the adoption of the term \"CHD7 disorder\" to encompass a wider range of associated symptoms. Recent research has identified CHD7 variants in individuals with isolated features such as autism spectrum disorder or gonadotropin-releasing hormone deficiency. In this study, we present three cases from two different families exhibiting audiovestibular impairment as the primary manifestation of a CHD7 variant. We discuss the expanding phenotypic variability observed in CHD7-related disorders, highlighting the importance of considering CHD7 in nonsyndromic hearing loss cases, especially when accompanied by inner ear malformations on MRI. Additionally, we underscore the necessity of genetic counseling and comprehensive clinical evaluation for individuals with CHD7 variants to ensure appropriate management of associated health concerns.