Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings
Our results show that NGS-based analysis is an effective MeDOC diagnostic tool. The Polish MeDOC patients are heterogenic, however recurrent variants are present. The novel variants and high number of TGM1 and SPINK5 copy number variations give further insight into molecular pathology of MeDOC. We show that secondary variants in MeDOC-related genes are present in a significant group of patients, which should be further investigated in the context of phenotype modifiers. Finally, we provide novel RNA and lipid data that characterise molecularly MeDOC epidermis.
Authors
- Justyna Sawicka (ORCID: https://orcid.org/0000-0002-8455-7943)
- Alicja Domaszewicz
- Agnieszka Magdalena Rygiel (ORCID: https://orcid.org/0000-0002-3838-2900)
- Bartłomiej Noszczyk (ORCID: https://orcid.org/0000-0002-2231-2182)
- Monika Jackiewicz
- Cezary Kowaléwski (ORCID: https://orcid.org/0000-0002-6608-9066)
- Ilona Jaszczuk (ORCID: https://orcid.org/0000-0002-5551-6915)
- Bartosz Wojtaś (ORCID: https://orcid.org/0000-0002-9967-910X)
- Jolanta Wierzba (ORCID: https://orcid.org/0000-0003-0290-1243)
- Artur Barczyk
- Orest Szczygielski
- Alicja Grabarczyk (ORCID: https://orcid.org/0000-0001-8634-205X)
- Alicja Szabelska‐Beręsewicz (ORCID: https://orcid.org/0000-0002-1806-0891)
- Katarzyna Duk (ORCID: https://orcid.org/0000-0002-4096-5275)
- Michel van Geel (ORCID: https://orcid.org/0000-0002-0273-8020)
- Aleksandra Jezela‐Stanek (ORCID: https://orcid.org/0000-0001-9814-0324)
- Anna Jakubiuk‐Tomaszuk
- Robert Śmigiel (ORCID: https://orcid.org/0000-0003-2930-9549)
- Jerzy Bal (ORCID: https://orcid.org/0000-0001-7638-5128)
- Joanna Zyprych-Walczak (ORCID: https://orcid.org/0000-0001-9465-3851)
- Katarzyna Niepokój (ORCID: https://orcid.org/0000-0002-8205-375X)
- Barbara Dorożko
- Natalia Braun-Walicka (ORCID: https://orcid.org/0000-0001-9212-7989)
- Sylwia Rzońca (ORCID: https://orcid.org/0000-0002-7372-2472)
- Anna Eckersdorf-Mastalerz
- Natalia Krześniak (ORCID: https://orcid.org/0000-0002-3608-3472)
- Paweł Własienko
- Bartłomiej Wawrzycki (ORCID: https://orcid.org/0000-0002-2172-701X)
- Katarzyna Wertheim‐Tysarowska (ORCID: https://orcid.org/0000-0001-9911-3811)
- Dominik Domański (ORCID: https://orcid.org/0000-0003-2549-1064)
- Katarzyna Osipowicz (ORCID: https://orcid.org/0000-0002-0666-8752)
- Tomasz Gambin (ORCID: https://orcid.org/0000-0002-0941-4571)
- Jakub Klapecki (ORCID: https://orcid.org/0000-0003-2236-6903)
- Agnieszka Sobczyńska‐Tomaszewska (ORCID: https://orcid.org/0000-0003-1603-817X)
- Bartłomiej Gielniewski (ORCID: https://orcid.org/0000-0001-8067-0618)
- Antoni Gostyński (ORCID: https://orcid.org/0000-0002-1091-2914)
- Aldona Pietrzak (ORCID: https://orcid.org/0000-0001-9494-6160)
- Mateusz Dawidziuk (ORCID: https://orcid.org/0000-0001-5102-8722)
- Ewa Obersztyn (ORCID: https://orcid.org/0000-0002-3044-9517)
- Ruszkowska Lidia
- Katarzyna Woźniak (ORCID: https://orcid.org/0000-0002-2211-2025)
- Anna Kutkowska‐Kaźmierczak (ORCID: https://orcid.org/0000-0001-5295-7363)
- Jennifer Castañeda
- Adrianna Mika
Institutions
- Medical University of Lublin (PL)
- Medical University of Białystok (PL)
- Instytut Biologii Doświadczalnej im. Marcelego Nenckiego (PL)
- Medical University of Warsaw (PL)
- Maastricht University Medical Centre (NL)
- Wroclaw Medical University (PL)
- Institute of Biochemistry and Biophysics, Polish Academy of Sciences (PL)
- Mother and Child Foundation (GB)
- Międzyleski Szpital Specjalistyczny w Warszawie (PL)
- Institute of Child and Mother Health (BD)
- University of Life Sciences in Poznań (PL)
- Gdańsk Medical University (PL)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2024-11-05
- DOI
- https://doi.org/10.1186/s13023-024-03395-4
- Citations
- 1
- Primary Topic
- Skin and Cellular Biology Research
- Type
- article
- Field-Weighted Citation Impact
- 0.33
Funders
- Narodowe Centrum Nauki