Absent inner dynein arms in a fetus with familial hydrocephalus-situs abnormality
Absent inner dynein arms in a fetus with familial hydrocephalus-situs abnormality
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DOI：
10.1002/ajmg.a.30177
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发表时间：
2004-09-01
影响因子：
2
通讯作者：
Takahashi, T
中科院分区：
文献类型：
--
作者：
Kosaki, K;Ikeda, K;Takahashi, T
我们报告了一个家庭，一对健康的无亲属关系的夫妇有一个双侧脑室肿大的男性胎儿，一个正常活产的女孩，一个葡萄胎妊娠，一个脑室肿大和位置异常的女性胎儿，一个患有脑积水的男性胎儿，左肺三叶，气管纤毛缺陷，缺乏内动力臂和单个中心粒。最后一个纤毛缺陷胎儿FOXJ1和POLL的突变分析显示，它们的编码区没有突变。在一个父母表型正常的家庭中，有三个男女患病胎儿，这表明这种情况是作为常染色体隐性遗传的。在对脑积水患儿的家庭进行咨询之前，建议对胸腹部位进行彻底的评估，因为体位缺陷的识别可能指向原发性纤毛缺陷的诊断，并且兄弟姐妹的复发风险为25%。这一数字远高于孤立性脑积水患者的兄弟姐妹1-2%的一般风险。(C) 2004 Wiley-Liss, Inc。
We report a family in which a healthy, unrelated couple had a male fetus with bilateral ventriculomegaly, a normal liveborn girl, a hydatidiform molar pregnancy, a female fetus with ventriculomegaly and situs abnormalities, and a male fetus with hydrocephalus, a three-lobed left lung, and defective tracheal cilia with absent inner dynein arms and a single centriole. A mutation analysis of FOXJ1 and POLL in the last fetus with ciliary defect revealed no mutation within their coding regions. The presence of three affected fetuses of both sexes in a family with phenotypically normal parents suggests that the condition was inherited as an autosomal recessive trait. A thorough evaluation of the thoracic and abdominal situs is recommended before counseling a family of a child with hydrocephalus, because the recognition of situs defects may point to the diagnosis of primary ciliary defect and recurrence risk of 25% for siblings. This figure is much higher than the general risk of 1-2% for siblings of a patient with isolated hydrocephalus. (C) 2004 Wiley-Liss, Inc.