Wu F, Ji X N, Shen M X, Gao Y Y, Zhang P P, Li S P, Chen Q
Department of Neurology, Children's Hospital, Capital Institute of Pediatrics, Beijing 100020, China.
Zhonghua Er Ke Za Zhi. 2023 Aug 2;61(8):726-730. doi: 10.3760/cma.j.cn112140-20230221-00118.
To discuss the clinical and genetic features of intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures (IDDBCS). The clinical and genetic records of a patient who was diagnosed with IDDBCS caused by PHF21A gene variation at Children's Hospital Capital Institute of Pediatrics in 2021 were collected retrospectively. Using " PHF21A gene" as the keyword, relevant articles were searched at CNKI, Wanfang Data and PubMed from establishment of databases to February 2023. Clinical and genetic features of IDDBCS were summarized in the combination of this case. An 8 months of age boy showed overgrowth (height, weight and head circumference were all higher than the 97 percentile of children of the same age and sex) and language and motor developmental delay after birth, and gradually showed autism-like symptoms like stereotyped behavior and poor eye contact. At 8 months of age, he began to show epileptic seizures, which were in the form of a series of spastic seizures with no reaction to adrenocorticotropic hormone but a good response to vigabatrin. Physical examination showed special craniofacial appearances including a prominent high forehead, sparse eyebrows, broad nasal bridge, and downturned mouth with a tent-shaped upper lip. The patient also manifested hypotonia. Whole exome sequencing showed a de novo heterogeneous variant, PHF21A (NM_001101802.1): c.54+1G>A, and IDDBCS was diagnosed. A total of 6 articles (all English articles) were collected, involving this case and other 14 patients of IDDBCS caused by PHF21A gene variation. Clinical manifestations were intellectual disability or developmental delay (15 patients), craniofacial anomalies (15 patients), behavioral abnormalities (12 patients), seizures (9 patients), and overgrowth (8 patients). The main pathogenic variations were frameshift variations (8 patients). IDDBCS should be considered when patients show nervous developmental abnormalities, craniofacial anomalies, seizures and overgrowth. PHF21A gene variation detection helps to make a definite diagnosis.
探讨伴行为异常及颅面畸形（有或无癫痫发作）的智力发育障碍（IDDBCS）的临床及遗传特征。回顾性收集2021年在首都儿科研究所附属儿童医院诊断为因PHF21A基因变异导致的IDDBCS患者的临床及遗传记录。以“PHF21A基因”为关键词，在知网、万方数据和PubMed数据库中检索自数据库建立至2023年2月的相关文章。结合该病例总结IDDBCS的临床及遗传特征。一名8个月大的男孩出生后出现生长过速（身高、体重和头围均高于同年龄、同性别的儿童第97百分位数）以及语言和运动发育迟缓，并逐渐出现如刻板行为和眼神接触不良等类似自闭症的症状。8个月大时，他开始出现癫痫发作，表现为一系列痉挛性发作，对促肾上腺皮质激素无反应，但对氨己烯酸反应良好。体格检查显示特殊的颅面外观，包括前额突出、眉毛稀疏、鼻梁宽阔、嘴角下垂且上唇呈帐篷状。患者还表现为肌张力低下。全外显子测序显示一个新生的杂合变异，PHF21A（NM_001101802.1）：c.54+1G>A，诊断为IDDBCS。共收集到6篇文章（均为英文文章），涉及该病例及其他14例因PHF21A基因变异导致的IDDBCS患者。临床表现为智力残疾或发育迟缓（15例）、颅面畸形（15例）、行为异常（12例）、癫痫发作（9例）和生长过速（8例）。主要致病变异为移码变异（8例）。当患者出现神经发育异常、颅面畸形、癫痫发作和生长过速时，应考虑IDDBCS。PHF21A基因变异检测有助于明确诊断。
