报春花综合征是一种罕见的常染色体显性疾病,由ZBTB20内的杂合错义变异引起。通过外显子组测序方法(作为解密发育障碍[DDD]研究的一部分),我们确定了五个以前未报告的无关个体,从头ZBTB20致病错义变体。所有五个错义变体靶向C2H2锌指结构域。这种基因型上升方法允许进一步完善报春花综合征表型。主要特征(>90%的人)包括智力障碍(最常见的是中等范围),可识别的面部外观和脑部MRI异常,特别是call体异常。其他常见的临床关联(50-90%的人)包括感音神经性听力损失(83%),低张力(78%),男性隐睾(75%),大头畸形(72%),行为问题(56%),和发育不良/发育不良的指甲(57%)。根据这些临床数据,我们讨论了我们目前对报春花综合征患者的管理。
Primrose syndrome is a rare autosomal dominant condition caused by heterozygous missense variants within
ZBTB20. Through an exome sequencing approach (as part of the Deciphering Developmental Disorders [DDD]
study) we have identified five unrelated individuals with previously unreported, de novo
ZBTB20 pathogenic missense variants. All five missense variants targeted the C2H2 zinc finger domains. This genotype-up approach has allowed further refinement of the Primrose syndrome phenotype. Major characteristics (>90% individuals) include an intellectual disability (most frequently in the moderate range), a recognizable facial appearance and brain MRI abnormalities, particularly abnormalities of the corpus callosum. Other frequent clinical associations (in 50-90% individuals) include sensorineural hearing loss (83%), hypotonia (78%), cryptorchidism in males (75%), macrocephaly (72%), behavioral issues (56%), and dysplastic/hypoplastic nails (57%). Based upon these clinical data we discuss our current management of patients with Primrose syndrome.