دورية أكاديمية
Null phenotype of neurofibromatosis type 1 in a carrier of a heterozygous atypical NF1 deletion due to mosaicism
| العنوان: | Null phenotype of neurofibromatosis type 1 in a carrier of a heterozygous atypical NF1 deletion due to mosaicism |
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| المؤلفون: | Kluwe, Lan, Friedrich, Reinhard E., Farschtschi, Said C., Hagel, Christian, Kehrer‐Sawatzki, Hildegard, Mautner, Victor‐Felix |
| بيانات النشر: | Universität Ulm |
| سنة النشر: | 2022 |
| المجموعة: | OPARU (OPen Access Repository of Ulm University) |
| مصطلحات موضوعية: | NF1 deletion, DDC 570 / Life sciences, Lipoma, Neurofibromatosis 1, Pheochromocytoma, Homologous recombination, Mosaicism, Lipom, Neurofibromatose, Phäochromozytom |
| الوصف: | An atypical NF1 deletion was coincidently found in the blood of a 65‐year‐old patient who, however, did not have any NF1‐associated symptom, suggesting that mosaicism is potentially possible in all de novo patients. Abstract We coincidently detected an atypical deletion of at least 1.3‐Mb, encompassing the NF1 tumor suppressor gene and several adjacent genes at an apparent heterozygous level in the blood of a 65‐year‐old female patient. She had multiple subcutaneous tumors that appeared with a certain similarity of subcutaneous neurofibromas, which, however, was revealed as lipomas by histological examination. Comprehensive and exhaustive clinical and radiological examinations did not detect any neurofibromatosis type 1‐related clinical symptoms in the patient. Multiplex ligation‐dependent probe amplification detected no or only very low level of the 1.3‐Mb NF1 deletion in six lipomas and two skin biopsies. Digital polymerase chain reaction estimated the proportion of cells carrying a heterozygous NF1 deletion at 87% in the blood, and 8%, 10%, 13%, 17%, and 20%, respectively, in the five lipomas investigated by this method, confirming our hypothesis of mosaicism. Our findings suggest that de novo cases of genetic disease are potentially mosaic regardless of finding the mutation at an apparently heterozygous level in the blood and that the possibility of mosaicism should be considered in genotype–phenotype studies and genetic counseling. ; publishedVersion |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| العلاقة: | https://databases.lovd.nl/shared/variants/0000602980Test; http://dx.doi.org/10.18725/OPARU-42172Test; https://oparu.uni-ulm.de/xmlui/123456789/42248Test; http://nbn-resolving.de/urn:nbn:de:bsz:289-oparu-42248-1Test |
| DOI: | 10.18725/OPARU-42172 |
| الإتاحة: | https://doi.org/10.18725/OPARU-42172Test https://oparu.uni-ulm.de/xmlui/123456789/42248Test http://nbn-resolving.de/urn:nbn:de:bsz:289-oparu-42248-1Test |
| حقوق: | CC BY 4.0 International ; https://creativecommons.org/licenses/by/4.0Test/ |
| رقم الانضمام: | edsbas.26DA2DF |
| قاعدة البيانات: | BASE |
| DOI: | 10.18725/OPARU-42172 |
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