Background 3-M syndrome is a clinically recognizable yet under-diagnosed primordial growth retardation disorder. Molecular testing for CULT, OBSL1 or CCDC8 genes can provide confirmed diagnosis for patients at prenatal or early age. So far, the clinical and molecular features of Chinese 3-M syndrome patients have not been reported. Methods: In this article, the authors performed prenatal and early diagnosis of Chinese patients with 3-M syndrome by Next-Generation Sequencing. Results: The authors reported six unrelated Chinese 3-M syndrome patients. Five of the six patients were diagnosed before two years of age including one prenatal case. The authors identified six novel pathogenic variants and five previously reported pathogenic variants. The authors' clinical evaluations indicated that Chinese 3-M syndrome patients share similar recognizable features as those reported in patients of other ethnic background. The authors noticed some uncommon features in this small cohort of Chinese patients such as delayed motor development at early ages, undelayed bone age and presence of lower eyelid fat pads. Conclusion: The authors' study of Chinese 3-M syndrome patients revealed novel mutations and clinical phenotypes.
基金:
foundation grant from Shanghai Science and Technology Commission [11dz1950300]; "Eastern Scholar" Fund; Natural Science Foundation of ChinaNational Natural Science Foundation of China [81371903]; National Natural Science Foundation of ChinaNational Natural Science Foundation of China [8167073]; Major Research Plan of the Provincial Science and Technology Foundation of Guangxi [AB16380219]; China Scholarship Counci; GeneScience Pharmaceuticals Co., Ltd. (Changchun, China)
通讯机构:[1]Maternal & Child Hlth Hosp Guangxi Zhuang Autonom, Genet & Metab Cent Lab, Nanning, Guangxi, Peoples R China;[2]Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Shanghai, Peoples R China;[3]Capital Med Univ, Beijing Childrens Hosp, Dept Endocrinol Genet & Metab, 56 South Lishi Rd, Beijing, Peoples R China;[4]Natl Childrens Med Ctr, Beijing, Peoples R China;[5]Harvard Med Sch, Boston Childrens Hosp, Div Genet & Genom, 300 Longwood Ave, Boston, MA 02115 USA
推荐引用方式(GB/T 7714):
Hu Xuyun,Li Hongdou,Gui Baoheng,et al.Prenatal and early diagnosis of Chinese 3-M syndrome patients with novel pathogenic variants[J].CLINICA CHIMICA ACTA.2017,474:159-164.doi:10.1016/j.cca.2017.09.022.
APA:
Hu, Xuyun,Li, Hongdou,Gui, Baoheng,Xu, Yufei,Wang, Jin...&Shen, Yiping.(2017).Prenatal and early diagnosis of Chinese 3-M syndrome patients with novel pathogenic variants.CLINICA CHIMICA ACTA,474,
MLA:
Hu, Xuyun,et al."Prenatal and early diagnosis of Chinese 3-M syndrome patients with novel pathogenic variants".CLINICA CHIMICA ACTA 474.(2017):159-164