Novel TGM5 mutations in acral peeling skin syndrome.
| Autor: | van der Velden JJ; Department of Dermatology, Maastricht University Medical Center+, Maastricht, The Netherlands; GROW Research School for Oncology and Developmental Biology, Maastricht University Medical Center+, Maastricht, The Netherlands., van Geel M, Nellen RG, Jonkman MF, McGrath JA, Nanda A, Sprecher E, van Steensel MA, McLean WH, Cassidy AJ |
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| Jazyk: | angličtina |
| Zdroj: | Experimental dermatology [Exp Dermatol] 2015 Apr; Vol. 24 (4), pp. 285-9. |
| DOI: | 10.1111/exd.12650 |
| Abstrakt: | Acral peeling skin syndrome (APSS, MIM #609796) is a rare autosomal recessive disorder characterized by superficial exfoliation and blistering of the volar and dorsal aspects of hands and feet. The level of separation is at the junction of the stratum granulosum and stratum corneum. APSS is caused by mutations in the TGM5 gene encoding transglutaminase-5, which is important for structural integrity of the outermost epidermal layers. The majority of patients originate from Europe and carry a p.(Gly113Cys) mutation in TGM5. In this study, we report both European and non-European families carrying other mutations in the TGM5 gene. In 5 patients, we found 3 novel mutations: c.1001+2_1001+3del, c.1171G>A and c.1498C>T. To confirm their pathogenicity, we performed functional analyses with a transglutaminase activity assay, determined alternative splicing by reverse-transcribed PCR analysis and used databases and in silico prediction tools. (© 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.) |
| Databáze: | MEDLINE |
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