Mutation Update for the PORCN Gene
| العنوان: | Mutation Update for the PORCN Gene |
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| المؤلفون: | Jacopo Celli, Marcel A. M. M. Mannens, Maria Paola Lombardi, Michael T. Gabbett, Jasper J. van der Smagt, Lillian Bomme Ousager, Raoul C.M. Hennekam, Saskia Bulk, Maria Soller, Robert Smigiel, Eva-Lena Stattin, AK Lampe |
| المساهمون: | Dept Clinical Genetics, University iof Amsterdam, Department of Pediatrics, Academic Medical Center, University of Amsterdam [Amsterdam] (UvA), Deaprtment of Clinical Genetics, University Medical Center [Utrecht], Center for Human and Clinical Genetics, Leiden University Medical Center (LUMC), Department of Clinical Genetics, Western General Hospital, Royal Brsibane and Womens' Hospital, The University of Queensland, Department of Pediatrics, Odense University Hospital, Medical Genetics, Lund University Hospital, Deapartment of Medical and Clinical Genetics, Umea University Hospital, Genetics Department, Wroclaw Medical University, Clinical Genetics, Academic Medical Centre, Human Genetics, ACS - Amsterdam Cardiovascular Sciences, ARD - Amsterdam Reproduction and Development, ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, Paediatrics |
| المصدر: | Human Mutation Human Mutation, Wiley, 2011, 32 (7), pp.723. ⟨10.1002/humu.21505⟩ Human mutation, 32(7), 723-728. Wiley-Liss Inc. Lombardi, M P, Bulk, S, Celli, J, Lampe, A, Gabbett, M T, Ousager, L B, van der Smagt, J J, Soller, M, Stattin, E-L, Mannens, M A M M, Smigiel, R & Hennekam, R C 2011, ' Mutation update for the PORCN gene ', Human Mutation, vol. 32, no. 7, pp. 723-8 . https://doi.org/10.1002/humu.21505Test Human Mutation; Vol 32 |
| بيانات النشر: | HAL CCSD, 2011. |
| سنة النشر: | 2011 |
| مصطلحات موضوعية: | medicine.medical_specialty, Pentalogy of Cantrell, Skin Diseases, Vascular, Biology, medicine.disease_cause, 03 medical and health sciences, Databases, Genetic, Genetics, medicine, Humans, Point Mutation, Coding region, Gene, Genetics (clinical), Sequence Deletion, 030304 developmental biology, Internet, 0303 health sciences, Mutation, Point mutation, 030305 genetics & heredity, Membrane Proteins, Life Sciences, Genetic Diseases, X-Linked, medicine.disease, Focal dermal hypoplasia, 3. Good health, PORCN, Focal Dermal Hypoplasia, Medical genetics, Acyltransferases |
| الوصف: | International audience; Mutations in the PORCN gene were first identified in Goltz-Gorlin syndrome patients in 2007. Since then several reports have been published describing a large variety of genetic defects resulting in the Goltz-Gorlin syndrome, and mutations or deletions were also reported in angioma serpiginosum, the pentalogy of Cantrell and Limb-Body Wall Complex. Here we present a review of the published mutations in the PORCN gene to date and report on 7 new mutations together with the corresponding clinical data. Based on the review we have created a web-based locus specific database which lists all identified variants and allows the inclusion of future reports. The database is based on the Leiden Open (source) Variation Database (LOVD) software and is accessible online at http://www.lovd.nl/porcnTest. At present the database contains 106 variants, representing 68 different mutations, scattered along the whole coding sequence of the PORCN gene, and 12 large gene rearrangements, which brings up to 80 the number of unique mutations identified in Goltz-Gorlin syndrome patients. |
| اللغة: | English |
| تدمد: | 1059-7794 1098-1004 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e86b3508bceb0ceb9f10ff7ebbc17556Test https://hal.archives-ouvertes.fr/hal-00654141/file/PEER_stage2_10.1002%2Fhumu.21505.pdfTest |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....e86b3508bceb0ceb9f10ff7ebbc17556 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 10597794 10981004 |
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