Xuyun Hu1, Hongdou Li2, Baoheng Gui2, Yufei Xu3, Jin Wang2, Niu Li3, Jiasun Su2, Shujie Zhang2, Yanning Song4, Yi Wang4, Jingsi Luo2, Xin Fan2, Jian Wang3, Shaoke Chen2, Chunxiu Gong5, Yiping Shen6. 1. Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, PR China; Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, PR China. 2. Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, PR China. 3. Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, PR China. 4. Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, Capital Medical University, Beijing, P.R. China; National Children's Medical Center, Beijing, PR China. 5. Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, Capital Medical University, Beijing, P.R. China; National Children's Medical Center, Beijing, PR China. Electronic address: chunxiugong@sina.com. 6. Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, PR China; Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, PR China; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States. Electronic address: yiping.shen@childrens.harvard.edu.
Abstract
BACKGROUND: 3-M syndrome is a clinically recognizable yet under-diagnosed primordial growth retardation disorder. Molecular testing for CUL7, 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.
BACKGROUND: 3-M syndrome is a clinically recognizable yet under-diagnosed primordial growth retardation disorder. Molecular testing for CUL7, 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 syndromepatients 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 syndromepatients. 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 syndromepatients 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 syndromepatients revealed novel mutations and clinical phenotypes.