Identification of two novel nonsense mutations in the transglutaminase 1 gene in a Hungarian patient with congenital ichthyosiform erythroderma
Identification of two novel nonsense mutations in the transglutaminase 1 gene in a Hungarian patient with congenital ichthyosiform erythroderma
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DOI：
10.1034/j.1600-0625.2003.120313.x
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发表时间：
2003-06-01
影响因子：
3.6
通讯作者：
Kárpáti, S
中科院分区：
文献类型：
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作者：
Becker, K;Csikós, M;Kárpáti, S
先天性鱼鳞病样红皮病 (CIE) 与板层状鱼鳞病 (LI) 一起属于常染色体隐性遗传先天性鱼鳞病 (ARCI)。已在多个 LI 家族和一些 CIE 家族中发现转谷氨酰胺酶 (TGase) 1 基因 (TGM1) 突变。我们报告了一例具有两个新的无义突变的 CIE 病例：外显子 11 中的 C7780G 颠换导致氨基酸残基 Y503X 处提前终止密码子，以及外显子 13 中的 C8533G 颠换导致 S669X 处出现无义突变。这些突变也在未受影响的父母中以杂合模式被发现。这两个终止密码子导致 TGM 1 分子的 C 末端结构域翻译出截短的蛋白质。 B.C1单克隆抗体未能检测到患者皮肤样本中的TGase 1，通过掺入单丹酰尸胺测得的TGase活性显示，表皮中TGase 1分布处的TGase活性降低。
Congenital ichthyosiform erythroderma (CIE) belongs together with lamellar ichthyosis (LI) to the group of autosomal recessive congenital ichthyoses (ARCI). Mutations in the transglutaminase (TGase) 1 gene (TGM1) have been identified in several families with LI and in some families with CIE. We report a case of CIE with two new nonsense mutations: a C7780G transversion in exon 11 resulting in a premature stop codon at aminoacid residue Y503X and a C8533G transversion in exon 13 leading to a nonsense mutation at S669X. These mutations were also identified in a heterozygous pattern in the unaffected parents. These two termination-codons result in the translation of a truncated protein at the C-terminal end domain of the TGM 1 molecule. B.C1 monoclonal antibody failed to detect TGase 1 in the patient's skin sample, and TGase activity measured by monodansyl cadaverine-incorporation showed the reduced TGase activity at the distribution of TGase 1 in the epidermis.