当前位置: 首页 > 详情页

Prenatal and early diagnosis of Chinese 3-M syndrome patients with novel pathogenic variants

文献详情

资源类型:

收录情况: ◇ SCIE

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
出处:
ISSN:

关键词: 3-M syndrome Bone age Chinese cohort CUL7 OBSL1 Short stature

摘要:
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:
语种:
被引次数:
WOS:
PubmedID:
中科院(CAS)分区:
出版当年[2016]版:
大类 | 3 区 医学
小类 | 2 区 医学实验技术
最新[2023]版:
大类 | 3 区 医学
小类 | 3 区 医学实验技术
JCR分区:
出版当年[2015]版:
Q1 MEDICAL LABORATORY TECHNOLOGY
最新[2023]版:
Q2 MEDICAL LABORATORY TECHNOLOGY

影响因子: 最新[2023版] 最新五年平均 出版当年[2015版] 出版当年五年平均 出版前一年[2014版] 出版后一年[2016版]

第一作者:
第一作者机构: [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;
通讯作者:
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):
APA:
MLA:

资源点击量:16409 今日访问量:0 总访问量:869 更新日期:2025-01-01 建议使用谷歌、火狐浏览器 常见问题

版权所有©2020 首都医科大学宣武医院 技术支持:重庆聚合科技有限公司 地址:北京市西城区长椿街45号宣武医院