Department of Pediatrics, Children's Hospital, University of Helsinki and Helsinki University Hospital (HUH), Helsinki, Finland.
PEDEGO Research Unit, University of Oulu, Oulu, Finland; Department of Clinical Genetics and Medical Research Center, Oulu University Hospital, Oulu, Finland.
Eur J Med Genet. 2023 Aug;66(8):104807. doi: 10.1016/j.ejmg.2023.104807. Epub 2023 Jun 28.
Jansen de Vries syndrome (JDVS, OMIM: 617450) is a rare neurodevelopmental disorder associated with hypotonia, behavioral features, high threshold to pain, short stature, ophthalmological abnormalities, dysmorphism and occasionally a structural cardiac condition. It is caused by truncating variants of the last and penultimate exons of PPM1D. So far, 21 patients with JVDS have been reported in the literature. Here, we describe four novel cases of JVDS and review the current literature. Notably, our patients 1, 3 and 4 do not have intellectual disability albeit they have significant developmental difficulties. Thus, the phenotype may span from a classic intellectual disability syndrome to a milder neurodevelopmental disorder. Interestingly, two of our patients have received successful growth hormone treatment. Considering the phenotype of all the known JDVS patients, a cardiological consultation is recommended, as at least 7/25 patients showed a structural cardiac defect. Episodic fever and vomiting may associate with hypoglycemia and may even mimic a metabolic disorder. We also report the first JDVS patient with a mosaic gene defect and a mild neurodevelopmental phenotype.
詹森德弗里斯综合征（JDVS，OMIM：617450）是一种罕见的神经发育障碍，与低张力、行为特征、对疼痛的高阈值、身材矮小、眼科异常、畸形有关，偶尔还伴有结构性心脏疾病。它是由 PPM1D 的最后和倒数第二个外显子的截断变异引起的。到目前为止，文献中已经报道了 21 例 JDVS 患者。在这里，我们描述了 4 例新型 JDVS 病例，并回顾了目前的文献。值得注意的是，我们的患者 1、3 和 4 虽然存在严重的发育困难，但没有智力残疾。因此，表型可能从经典的智力残疾综合征扩展到更轻微的神经发育障碍。有趣的是，我们的两名患者接受了成功的生长激素治疗。考虑到所有已知 JDVS 患者的表型，建议进行心脏咨询，因为至少有 7/25 的患者存在结构性心脏缺陷。阵发性发热和呕吐可能与低血糖有关，甚至可能类似于代谢紊乱。我们还报告了首例 JDVS 患者存在镶嵌基因缺陷和轻度神经发育表型。
