Tsai Meng-Ju Melody, Lee Ni-Chung, Chien Yin-Hsiu, Hwu Wuh-Liang, Tung Yi-Ching
Department of Pediatrics, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan.
Department of Pediatrics, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
J Formos Med Assoc. 2022 Apr;121(4):856-860. doi: 10.1016/j.jfma.2021.12.022. Epub 2022 Jan 10.
Short stature and intellectual disability are two of the major components of many dysmorphic syndromes. Jansen-de Vries syndrome (JDVS) is a rare syndromic disorder that was discovered recently using next-generation sequencing. It is characterized by hypotonia, developmental delay, a dysmorphic face, short stature, and high pain threshold and is caused by the variants of the protein phosphatase magnesium-dependent 1D (PPM1D) gene. Here, we report the first two cases of PPM1D mutations in Taiwan; both had de novo variants in exon 6. Both presented with short stature, developmental delay, and dysmorphic faces. In addition to the characteristics listed above, syndactyly was noted in one. Genetic studies should be considered when approaching a patient with growth retardation, intellectual disability, and other major or minor dysmorphisms.
身材矮小和智力障碍是许多畸形综合征的两个主要组成部分。扬森 - 德弗里斯综合征（JDVS）是一种罕见的综合征性疾病，最近通过下一代测序发现。其特征为肌张力减退、发育迟缓、面部畸形、身材矮小和高痛阈，由蛋白磷酸酶镁依赖1D（PPM1D）基因的变异引起。在此，我们报告台湾首例两例PPM1D突变病例；两例均在外显子6中有新生变异。两人均表现为身材矮小、发育迟缓及面部畸形。除上述特征外，其中一人还发现并指畸形。对于生长发育迟缓、智力障碍及其他有主要或次要畸形的患者，应考虑进行基因研究。
