Nye J S, McLone D G, Charrow J, Hayes E A
Department of Molecular Pharmacology and Biological Chemistry, Northwestern University Medical School, Chicago, Illinois 60611, USA.
Teratology. 1999 Oct;60(4):179-89. doi: 10.1002/(SICI)1096-9926(199910)60:4<179::AID-TERA2>3.0.CO;2-U.
A hereditary contribution to the etiology of neural tube defects (NTDs) has been suggested by clinical studies and animal models. To evaluate the hypothesis that common genes are important for both neural tube defects and neural crest anomalies, we examined children with developmental abnormalities of the spinal cord for anomalies of neural crest-derived structures. Neural crest anomalies, particularly auditory and pigmentary disorders, were identified and classified according to inheritance and type of anomaly. Of the 515 children screened, 44 (8.5%) had neural crest anomalies, 20 (3.9%) of which were apparently familial. Another 19 (3.7%) families had neural crest anomalies in two or more close relations, but the NTD subject was unaffected. Sixteen (3.1%) children with NTDs had a recognizable syndrome, including nine (1.7%) with a subtype of the Waardenburg syndromes. The coincidence of familial neural crest anomaly syndromes in subjects with spina bifida implies that defects in genes underlying neural crest development may contribute to the etiology of neural tube defects in a fraction of cases. The rate of anomalies and familial syndromes of neural crest-derived structures must be assessed in an adequate control sample to evaluate whether or not these abnormalities constitute risk factors for NTDs.
临床研究和动物模型表明，神经管缺陷（NTDs）的病因存在遗传因素。为了评估常见基因对神经管缺陷和神经嵴异常均很重要这一假说，我们检查了患有脊髓发育异常的儿童是否存在神经嵴衍生结构异常。根据遗传方式和异常类型对神经嵴异常，尤其是听觉和色素沉着障碍进行了识别和分类。在筛查的515名儿童中，44名（8.5%）存在神经嵴异常，其中20名（3.9%）明显为家族性。另外19个（3.7%）家庭中有两个或更多近亲存在神经嵴异常，但神经管缺陷患者未受影响。16名（3.1%）患有神经管缺陷的儿童有可识别的综合征，其中9名（1.7%）患有瓦登伯革氏综合征的一个亚型。脊柱裂患者中家族性神经嵴异常综合征的巧合意味着，神经嵴发育相关基因的缺陷可能在部分病例中导致神经管缺陷的病因。必须在足够的对照样本中评估神经嵴衍生结构的异常率和家族性综合征，以评估这些异常是否构成神经管缺陷的危险因素。
