A novel \(\it ECM1\) splice site mutation in lipoid proteinosis
- Lipoid proteinosis (LP) is an autosomal recessive genodermatosis known to be caused by mutations in \(\it ECM1\). Nonsense and missense mutations are the most common variations in LP. Up to date, only 6 splice site mutations have been observed. We report on a 26-year-old female LP patient from a Turkish consanguineous family carrying a novel homozygous splice site mutation in intron 8 of the \(\it ECM1\) gene and summarize the current knowledge on \(\it ECM1\) mutations and possible genotype-phenotype correlations.
| Author: | Linda Kristin ReyGND, Jürgen KohlhaseGND, Katrin MöllenhoffGND, Gabriele DekomienGND, Jörg T. EpplenORCiDGND, Sabine HoffjanGND |
|---|---|
| URN: | urn:nbn:de:hbz:294-60447 |
| DOI: | https://doi.org/10.1159/000444615 |
| Parent Title (English): | Molecular syndromology |
| Subtitle (English): | case report plus review of the literature |
| Document Type: | Article |
| Language: | English |
| Date of Publication (online): | 2018/07/25 |
| Date of first Publication: | 2016/03/15 |
| Publishing Institution: | Ruhr-Universität Bochum, Universitätsbibliothek |
| Tag: | Open Access Fonds ECM1; Genodermatosis; Lipoid proteinosis; Splice site mutation; Urbach-Wiethe syndrome |
| Volume: | 7 |
| Issue: | 1 |
| First Page: | 26 |
| Last Page: | 31 |
| Note: | Article Processing Charge funded by the Open Access Publication Fund of Ruhr-Universität Bochum. |
| Institutes/Facilities: | Medizinische Fakultät, Abteilung für Humangenetik |
| Dewey Decimal Classification: | Naturwissenschaften und Mathematik / Biowissenschaften, Biologie, Biochemie |
| open_access (DINI-Set): | open_access |
| faculties: | Medizinische Fakultät |
| Licence (German): |  Nationale Lizenz |
