Institute of Dermatology & Department of Dermatology at First Hospital, Anhui Medical University, Anhui, China.
Clin Exp Dermatol. 2009 Dec;34(8):e957-61. doi: 10.1111/j.1365-2230.2009.03703.x.
Epidermolysis bullosa simplex (EBS) is a group of inherited skin diseases, characterized by the formation of intraepidermal blisters. We performed genetic analysis of the keratin 5 (KRT5) gene in two Chinese pedigrees. One novel missense mutation was identified in a patient with sporadic EBS (general, non-Dowling-Meara). Sequence analysis showed a heterozygous T > A transition at nucleotide 1730 of KRT5, changing phenylalanine (Phe) to tyrosine (Tyr) at position 577 of the keratin 5 (K5). In addition, two recurrent mutations c.1649delG (p.Gly550AlafsX77) and c.508G > (p.Glu170Lys) in KRT5 were identified in Chinese patients with mottled pigmentation EBS and localized EBS, respectively. None of the mutations were found in any unaffected family members or in an additional 100 unrelated control samples. These results suggest that these mutations are pathogenic and might be one of the potential causes of EBS in these Chinese patients.
单纯型大疱性表皮松解症(EBS)是一组遗传性皮肤疾病,其特征为表皮内水疱形成。我们对两个中国家系的角蛋白 5(KRT5)基因进行了遗传分析。在一名散发型 EBS(非 Dowling-Meara 型)患者中发现了一个新的错义突变。序列分析显示 KRT5 核苷酸 1730 处存在 T > A 转换,导致第 577 位的苯丙氨酸(Phe)突变为酪氨酸(Tyr)。此外,在中国患有斑驳色素性 EBS 和局限性 EBS 的患者中,分别发现了 KRT5 中的两个反复出现的突变 c.1649delG(p.Gly550AlafsX77)和 c.508G >(p.Glu170Lys)。在任何未受影响的家庭成员或另外 100 名无关对照样本中均未发现这些突变。这些结果表明这些突变是致病性的,可能是这些中国患者 EBS 的潜在原因之一。