Department of Neurology, The First People's Hospital of Huzhou, Huzhou, China.
Department of Neurology, The First Affiliated Hospital of Huzhou Teachers College, Huzhou, China.
J Int Med Res. 2024 Aug;52(8):3000605241272533. doi: 10.1177/03000605241272533.
The carbon catabolite repression 4-negative on TATA-less transcription complex subunit 3 gene () plays a key role in regulating the mRNA transcription and protein translation of other genes. Mutations in have also recently been implicated as a causative factor of intellectual developmental disorder with speech delay, autism, and dysmorphic facies (IDDSADF). However, to date, only a few mutations have been reported to be associated with IDDSADF-related diseases. In the present case, we report a Chinese patient with developmental delay, verbal regression, and facial dysmorphism, in whom cerebral magnetic resonance imaging showed an expansion of the lateral ventricle. The patient was diagnosed with an IDDSADF-related disease caused by a c.1616_1623del mutation in exon 14 of , which was confirmed by whole-exome sequencing and direct Sanger sequencing. This case report is the first known documentation of a pathogenic mutation at the c.1616_1623del locus of in the worldwide population. It provides a critical theoretical basis for the specific gene-based diagnosis of IDDSADF-related diseases and expands the mutation profile of .
碳分解代谢物阻遏物 4 阴性的 TATA 缺乏转录复合物亚基 3 基因（）在调节其他基因的 mRNA 转录和蛋白质翻译中发挥着关键作用。最近，突变也被认为是智力发育障碍伴言语延迟、自闭症和发育异常面容（IDDSADF）的致病因素。然而，迄今为止，仅有少数与 IDDSADF 相关疾病相关的报道。在本病例中，我们报告了一名中国患者，其表现为发育迟缓、言语倒退和面部发育异常，头颅磁共振成像显示侧脑室扩张。该患者被诊断为 IDDSADF 相关疾病，其原因是第 14 外显子中的 c.1616_1623del 突变，该突变通过全外显子测序和直接 Sanger 测序得到了证实。该病例报告是首例在全球人群中发现位于 c.1616_1623del 位点的致病性突变的报道，为 IDDSADF 相关疾病的特定基因诊断提供了重要的理论依据，并扩展了的突变谱。
