丝聚合蛋白突变是加剧X连锁鱼鳞病的基因修饰因素。

Filaggrin mutations are genetic modifying factors exacerbating X-linked ichthyosis.

作者信息

Liao Haihui, Waters Alex J, Goudie David R, Aitken David A, Graham Gordon, Smith Frances J D, Lewis-Jones Sue, McLean W H Irwin

机构信息

Epithelial Genetics Group, Human Genetics Unit, Division of Pathology and Neuroscience, Ninewells Hospital and Medical School, University of Dundee, Dundee, UK.

出版信息

J Invest Dermatol. 2007 Dec;127(12):2795-8. doi: 10.1038/sj.jid.5700971. Epub 2007 Jul 26.

Abstract

Mutations inactivating the STS gene cause X-linked ichthyosis (XLI), whereas null mutations in the FLG gene cause ichthyosis vulgaris. Two brothers presented with XLI. One had a typical fine scaling, and the other was much more severely affected. Both patients carried STS missense mutation T165I. Furthermore, the more severely affected patient also carried heterozygous FLG mutation R501X, which was absent from his mildly affected brother. These data suggest that disrupting epidermal differentiation via different pathways can increase phenotypic severity. Owing to the high population frequency of FLG mutations, filaggrin is a possible genetic modifier in other genodermatoses.

摘要

使STS基因失活的突变会导致X连锁鱼鳞病(XLI),而FLG基因的无效突变会导致寻常型鱼鳞病。两名兄弟患有XLI。其中一人有典型的细鳞屑,另一人病情严重得多。两名患者均携带STS错义突变T165I。此外,病情严重的患者还携带杂合性FLG突变R501X,而病情较轻的兄弟没有该突变。这些数据表明,通过不同途径破坏表皮分化会增加表型严重程度。由于FLG突变在人群中的高频率,丝聚合蛋白可能是其他遗传性皮肤病的一种遗传修饰因子。

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