Gene-environment interactions in rare diseases that include common birth defects
Gene-environment interactions in rare diseases that include common birth defects
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DOI：
10.1002/bdra.20193
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发表时间：
2005-11-01
影响因子：
--
通讯作者：
Shaw, GM
中科院分区：
文献类型：
--
作者：
Graham, JM;Shaw, GM
罕见综合征通常具有特定类型的出生缺陷，这些缺陷通常是特定疾病存在的主要诊断线索。尽管有这种特异性，但并不是每个患有相同综合征的人都受到同样或不同的影响，也不是每个患有特定出生缺陷的人都表现出相同的综合征或受到特定综合征的所有特征的影响。由美国国立卫生研究院罕见疾病办公室和国家毒理学计划人类生殖风险评估中心主办的研讨会试图探索这种变异性有多少是由于遗传因素，有多少是由于环境因素。检查的特定类型的出生缺陷包括心血管缺陷、前脑无裂、唇和/或腭裂、神经管缺陷和疝。
Rare syndromes often feature specific types of birth defects that frequently are major diagnostic clues to the presence of a given disorder. Despite this specificity, not everyone with the same syndrome is equally or comparably affected, and not everyone with a specific birth defect manifests the same syndrome or is affected with all the features of a particular syndrome. A symposium sponsored by the National Institutes of Health Office of Rare Diseases, and the National Toxicology Program Center for the Evaluation of Risks to Human Reproduction attempted to explore how much of this variability is due to genetic factors and how much is due to environmental factors. The specific types of birth defects examined included cardiovascular defects, holoprosencephaly, clefts of the lip and/or palate, neural tube defects, and diaphragmatic hernias.