伴有或不伴有癫痫发作的行为异常和颅面畸形的智力发育障碍（IDDBCS）是一种异质性遗传综合征，具有多种临床差异，例如顶孔扩大，多个外生体,癫痫,智力残疾（ID），和颅面畸形（CFA）。PHF21A的致病变异与广泛的表型有关。到目前为止,文献中仅描述了24例患者；因此，报告发现重叠的额外病例将显著有助于基因型-表型相互关系,并有助于探索和理解潜在的病理生理机制.本文受版权保护。保留所有权利。
IDDBCS is a heterogeneous genetic syndrome with diverse clinical features including Intellectual disability and epilepsy. Using WES, Sanger sequencing, we identified a novel nonsense variant in the PHF21A gene responsible for IDDBCS syndrome. The patient has diverse and overlapping clinical phenotypes. The identified variant leads to abnormal secondary and tertiary structure of the protein and, consequently, affects its function.
