Mutation analysis of the PLOD1 gene:: An efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA)
Mutation analysis of the PLOD1 gene:: An efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA)
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DOI：
10.1016/j.ymgme.2005.04.014
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发表时间：
2005-09-01
影响因子：
3.8
通讯作者：
Steinmann, B
中科院分区：
文献类型：
--
作者：
Giunta, C;Randolph, A;Steinmann, B
脊柱后凸型Ehlers-Danlos综合征（EDS VIA）是一种遗传性结缔组织疾病，其特征是PLOD 1突变导致赖氨酰羟化酶缺乏。我们描述了使用cDNA或gDNA或其组合的PLOD 1基因的突变分析策略，其允许在患有EDS VIA的患者中进行可靠的、时间有效的和高效的突变检测。我们报告了来自12个无关家族的9名索引患者的结果：3例患者为3种新突变的纯合子（p.Ile454IlefsX2、p.Ala667Thr和p.His706Arg），4名患者为外显子10-16的常见重复纯合，1名患者为常见重复和p.Ile454IlefsX2的复合杂合，1名患者为p.Arg319X纯合。(c)2005年爱思唯尔公司All rights reserved.
The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA) is an inheritable connective tissue disorder characterized by a deficiency of lysyl hydroxylase due to mutations in PLOD1. We describe a mutation analysis strategy for the PLOD1 gene using either cDNA or gDNA or a combination thereof, which allows for reliable, time-effective and efficient mutation detection in patients with EDS VIA. We report the results obtained in 9 index patients from 12 unrelated families: three patients were homozygous for three novel mutations (p.Ile454IlefsX2, p.Ala667Thr, and p.His706Arg), four patients were homozygous for the common duplication of exons 10-16, one patient was compound heterozygous for the common duplication and p.Ile454IlefsX2, and one patient was homozygous for p.Arg319X. (c) 2005 Elsevier Inc. All rights reserved.