Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Mol Genet Genomic Med. 2020 Mar;8(3):e1120. doi: 10.1002/mgg3.1120. Epub 2020 Jan 8.
Jansen-de Vries syndrome is a rare autosomal dominant neurodevelopmental disorder caused by pathogenic variants in the last and penultimate exons of the PPM1D gene. It is characterized by delayed psychomotor development, intellectual disability with speech delay, behavioral abnormalities, and dysmorphic features. Up to date, only 17 affected patients have been reported worldwide (no report in Chinese).
Here, we analyzed the clinical data and genetic test results of a Chinese patient with Jansen-de Vries syndrome admitted in our hospital in May 2019.
We report a 9-month-old boy carrying a pathogenic variant (c.1254_1255del, p.(V419Qfs*14)) in PPM1D exon 5, which can account for his phenotype. Most of his clinical features overlap with the reported phenotype, such as growth retardation, feeding difficulties, constipation, congenital abnormalities (such as atrial septal defect, ventricular septal defect, and patent ductus arteriosus), small hands and feet with broad forehead, low-set posteriorly rotated ears, wide mouth with thin upper lip and pointed chin; however, he also presented with additional features like hepatomegaly and left inguinal hernia.
This is the first published case of Jansen-de Vries syndrome in Chinese population, which will help us to enrich the clinical spectrum of this syndrome.
Jansen-de Vries 综合征是一种罕见的常染色体显性神经发育障碍，由 PPM1D 基因的最后和倒数第二个外显子中的致病性变异引起。其特征为精神运动发育迟缓、伴有言语延迟的智力残疾、行为异常和发育异常。迄今为止，全世界仅报道了 17 例受影响的患者（无中文报道）。
我们分析了 2019 年 5 月我院收治的一名 Jansen-de Vries 综合征中国患者的临床数据和基因检测结果。
我们报告了一名 9 月龄男孩携带 PPM1D 外显子 5 中的致病性变异（c.1254_1255del，p.（V419Qfs*14）），该变异可解释其表型。他的大多数临床特征与已报道的表型重叠，如生长迟缓、喂养困难、便秘、先天性异常（如房间隔缺损、室间隔缺损和动脉导管未闭）、手脚小而额头宽、耳朵后旋低、嘴宽而上唇薄、下巴尖；然而，他还存在肝肿大和左侧腹股沟疝等额外特征。
这是首例在中国人群中报道的 Jansen-de Vries 综合征病例，将有助于丰富该综合征的临床谱。
