New surfactant protein C gene mutations associated with diffuse lung disease
New surfactant protein C gene mutations associated with diffuse lung disease
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DOI：
10.1136/jmg.2009.066829
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发表时间：
2009-07-01
影响因子：
4
通讯作者：
Feldmann, D.
中科院分区：
文献类型：
--
作者：
Guillot, L.;Epaud, R.;Feldmann, D.
背景资料：表面活性蛋白C基因（SFTPC）突变最近被认为与弥漫性肺疾病，特别是散发性和家族性间质性肺疾病（ILD）的发生有关。目的：我们调查了一个大的婴儿和儿童弥漫性肺疾病和怀疑有表面活性物质功能障碍的队列中SFTPC突变的患病率和谱。方法和结果：121名儿童首先筛查常见的SFTPC突变，p.Ile73Thr（I73 T）。10名无关的患者被证明携带这种突变。I73 T突变在6例中遗传，在4例中出现新发。对111例无I73 T突变的患者进行SFTPC全编码序列筛查。其中，8名（7名无关）受试者被证明携带一种新的突变等位基因的SFTPC。所有这7个新的突变都位于BRICHOS域除了p.Val39Ala（V39 A）突变，这是在表面活性蛋白C（SP-C）的成熟peptide.Conclusions：我们的研究结果证实，SFTPC突变是一个常见的原因弥漫性肺疾病，和I73 T是最常见的SFTPC突变与弥漫性肺疾病。
Background: Mutations in the surfactant protein C gene (SFTPC) have been recently associated with the development of diffuse lung disease, particularly sporadic and familial interstitial lung disease (ILD).Objective: We have investigated the prevalence and the spectrum of SFTPC mutations in a large cohort of infants and children with diffuse lung disease and suspected with surfactant dysfunction.Method and results: 121 children were first screened for the common SFTPC mutation, p. Ile73Thr (I73T). Ten unrelated patients were shown to carry this mutation. The I73T mutation was inherited in six cases, and appeared de novo in four. The 111 patients without the I73T mutation were screened for the entire coding sequence of SFTPC. Of these, eight (seven unrelated) subjects were shown to carry a novel mutant allele of SFTPC. All these seven new mutations are located in the BRICHOS domain except the p. Val39Ala (V39A) mutation, which is in the surfactant protein C (SP-C) mature peptide.Conclusions: Our results confirm that SFTPC mutations are a frequent cause of diffuse lung disease, and that I73T is the most frequent SFTPC mutation associated with diffuse lung disease.