The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.
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DOI：
10.1002/humu.9505
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发表时间：
2007-09-01
期刊：
影响因子：
3.9
通讯作者：
Child, Anne
中科院分区：
文献类型：
--
作者：
Comeglio, Paolo;Johnson, Philip;Child, Anne
FBN 1基因突变的特点是受马凡氏综合征和马凡氏相关疾病的患者。从基因组DNA开始，我们使用PCR、SSCP和/或dHPLC分析以及异常条带/峰的自动测序分析了FBN 1基因，在连续的508例患者中，其中22例为小于5岁的儿童。我们的研究结果与其他研究组的研究结果具有可比性。在这项研究中，我们观察到193个突变，其中126个以前未报告。共有120名先证者的331名亲属（包括51名婴儿）在这里或其他地方发现了家族突变，他们接受了该特定突变的检测。此外，还进行了4次产前检查。突变的鉴定有助于早期诊断、预后、遗传咨询、对携带者的预防性管理和使未受影响的亲属放心。提前知道推定的家庭突变的位置的重要性是突出了其直接应用于产前和产后筛查。
Mutations in the FBN1 gene have been characterised in patients affected by Marfan syndrome and Marfan-related disorders. Starting with genomic DNA, we analysed the FBN1 gene using PCR, SSCP and/or dHPLC analysis, and automatic sequencing of abnormal bands/peaks, in a consecutive series of 508 patients, of which 22 were children less than 5 years old. Our results are comparable with those reported by other groups. In this study we observed 193 mutations, 126 of which previously unreported. A total of 331 relatives (including 51 infants) of 120 probands for whom a family mutation had been identified here or elsewhere, were tested for the presence of that particular mutation. In addition, 4 prenatal tests were carried out. The identification of a mutation allows for early diagnosis, prognosis, genetic counselling, preventive management of carriers and reassurance for unaffected relatives. The importance of knowing in advance the location of the putative family mutation is highlighted by its straightforward application to prenatal and postnatal screening.