PTCH1 isoform 1b is the major transcript in the development of basal cell nevus syndrome
| Autor: | Hannele Koillinen, Marieke G H C Reinders, Michel van Geel, Robbert-Jan C A M Gielen, Klara Mosterd, Aimee D C Paulussen |
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| Přispěvatelé: | RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy, Dermatologie, Promovendi ODB, MUMC+: MA Dermatologie (9), MUMC+: DA KG Lab Centraal Lab (9) |
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
Male
0301 basic medicine Gene isoform endocrine system Skin Neoplasms Basal Cell Nevus Syndrome PROTEIN Human skin Biology 03 medical and health sciences Germline mutation Genetics Humans Protein Isoforms TUMOR-SUPPRESSOR Child Gene Germ-Line Mutation Genetics (clinical) Regulation of gene expression 1ST EXONS PTCH1 Gene Molecular biology GENE Gene Expression Regulation Neoplastic Patched-1 Receptor 030104 developmental biology PTCH1 PATCHED1 CARCINOMA SYNDROME |
| Zdroj: | Journal of Human Genetics, 63(9), 965-969. Nature Publishing Group |
| ISSN: | 1434-5161 |
| DOI: | 10.1038/s10038-018-0485-0 |
| Popis: | Basal cell nevus syndrome (BCNS) is an autosomal dominant disorder most commonly caused by a germline mutation in the PTCH1 gene. PTCH1 is known to have different isoforms with different functional properties and expression patterns among tissues. We detected a novel, pathogenic de novo mutation in PTCH1 isoform 1b (c.114delG) in a BCNS patient. Furthermore, we elucidated the specific expression pattern of PTCH1 isoforms in normal skin, BCC and peripheral blood by studying expression of different PTCH1 isoforms. Human skin showed expression of isoforms 1b and 1d, while peripheral blood additionally showed la and le expression. BCCs showed expression of all isoforms. Here we report a patient with a novel, isoform 1b specific mutation in PTCH1 and thereby distinguish PTCH1 isoform 1b as the major transcript in the development of BCNS. |
| Databáze: | OpenAIRE |
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