两个小说在KRT14识别隐性突变群21西班牙家庭表皮松解大疱单纯形。
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加西亚M,圣地亚哥杰,Terron Hernandez-Martin,韦森特,Fortuny C·德·卢卡斯R,洛佩兹JC, Cuadrado-Corrales N,奥尔金市中心,Illera N, Duarte B, Sanchez-Jimeno C, Llames年代,加西亚E, Ayuso C, Martinez-Santamaria L, Castiglia D, De Luca N, Torrelo,探讨D, D巴蒂,Zambruno G, Escamez MJ,德尔里奥米
两个小说在KRT14识别隐性突变群21西班牙家庭表皮松解大疱单纯形。
Br北京医学。2011年9月,165 (3):683 - 92。doi: 10.1111 / j.1365-2133.2011.10428.x。
- PubMed ID
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21623745 (在PubMed]
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背景:基底表皮松解大疱单纯形(EBS)是一群极genodermatoses主要由角蛋白基因突变引起的,KRT5 KRT14。隐性突变代表大约5%的EBS突变,与高血缘关系,常见的和特定的人群,影响患者表现出严重的表型。目标:完成第一个突变分析病人的西班牙血统与EBS和描绘一个全面genotype-phenotype相关性。方法:21 EBS家庭进行分析。免疫荧光映射在dermoepidermal结级别进行皮肤活检的病人。整个编码序列的突变筛查KRT5和KRT14基因组DNA进行聚合酶链反应和直接测序。结果:KRT5或KRT14诱发突变被发现在18日的21个EBS的家庭。总共有14种不同的突变公布,其中12例占主导地位的错义突变和两个删除隐性突变。五14突变的小说包括三个主要KRT5 (p。V186E, p。T321P和p.A428T)和两个隐性KRT14 (p。K116X和p.K250RfsX8)。 The two patients with EBS carrying homozygous recessive mutations were affected by severe phenotypes and belonged to consanguineous families. All five families with the EBS Dowling-Meara subtype carried recurrent mutations affecting the highly conserved ends of the alpha-helical rod domain of K5 and K14. The seven mutations associated with the localized EBS subtype were widely distributed along the KRT5 and KRT14 genes. Two families with mottled pigmentation carried the P25L mutation in KRT5, commonly associated with this subtype. CONCLUSIONS: This study further confirms the genotype-phenotype correlation established for EBS in other ethnic groups, and is the first in a Mediterranean country (excluding Israel). This study adds two novel recessive mutations to the worldwide record to date, which includes a total of 14 mutations. As in previous reports, the recessive mutations resulted in a lack of keratin K14, giving rise to a generalized and severe presentation.