Familial diaphragmatic defects: early prenatal diagnosis and evidence for major gene inheritance.
Familial diaphragmatic defects: early prenatal diagnosis and evidence for major gene inheritance.
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家族性膈肌缺陷：早期产前诊断和主要基因遗传的证据。
DOI：
10.1002/ajmg.1320250620
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发表时间：
1986
期刊：
影响因子：
--
通讯作者：
Weissberg,DL
中科院分区：
文献类型：
--
作者：
Bocian,M;Spence,MA;Marazita,ML;Walker,AP;Weissberg,DL
先天性膈肌缺损（先天性膈肌缺损，CDD）是一种较为常见的畸形，超过50%的患儿会导致新生儿死亡[Harrison and de Lorimier， 1981]。虽然大多数病例是散发的，但家族聚集发生，关于这是“多因素”还是常染色体隐性性状存在争议。受影响家庭的统计遗传分析尚未报道。我们报告了两个新的多发CDD的家庭。在其中一个家庭中，病变在14周时通过超声在胎儿中检测到，这是最早报道的CDD产前诊断。对我们的数据和文献中另外17个多重家族的分离分析得出常染色体隐性遗传假说不能被拒绝的结论。数据拒绝了多因素决定。分析是复杂的几个因素，包括表型变异性，可能的遗传异质性，和缺陷的不充分的描述和一级亲属的研究。基于多因素决定模型的复发风险数据低估了多重家族的风险，在主基因模型被拒绝或异质性被明确证明之前不应使用。
Congenital diaphragmatic defect (CDD) is a relatively common malformation and results in neonatal death in over 50% of affected infants [Harrison and de Lorimier, 1981]. Although most cases are sporadic, familial aggregation occurs, and controversy exists as to whether this is a “multifactorial” or autosomal recessive trait. Statistical genetic analysis of affected families has not been reported.We report on two new families with multiple occurrence of CDD. In one of the families, the lesion was detected in the fetus by ultrasound at 14 weeks, the earliest reported prenatal diagnosis of CDD.Segregation analysis of our data and of 17 additional multiplex families from the literature led to the conclusion that the autosomal recessive hypothesis cannot be rejected. Multifactorial determination is rejected by the data. The analyses are complicated by several factors, including phenotypic variability, probable genetic heterogeneity, and inadequate description of defects and studies of first‐degree relatives. Recurrence risk figures based on a model of multifactorial determination give an underestimate of risk in multiplex families and should not be used until the major gene model is rejected or heterogeneity is clearly demonstrated.