دورية أكاديمية
Challenging Occam’s Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures
| العنوان: | Challenging Occam’s Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures |
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| المؤلفون: | Beatrice Spedicati, Anna Morgan, Giulia Pianigiani, Luciana Musante, Elisa Rubinato, Aurora Santin, Giuseppe Giovanni Nardone, Flavio Faletra, Giorgia Girotto |
| المصدر: | Genes, Vol 13, Iss 11, p 2023 (2022) |
| بيانات النشر: | MDPI AG, 2022. |
| سنة النشر: | 2022 |
| المجموعة: | LCC:Genetics |
| مصطلحات موضوعية: | dual molecular diagnosis, multilocus genomic variation, whole exome sequencing, Genetics, QH426-470 |
| الوصف: | Dual molecular diagnoses are defined as the presence of pathogenic variants at two distinct and independently segregating loci that cause two different Mendelian conditions. In this study, we report the identification of double genetic disorders in a series of patients with complex clinical features. In the last 24 months, 342 syndromic patients have been recruited and clinically characterised. Whole Exome Sequencing analysis has been performed on the proband and on both parents and identified seven patients affected by a dual molecular diagnosis. Upon a detailed evaluation of both their clinical and molecular features, subjects are able to be divided into two groups: (A) five patients who present distinct phenotypes, due to each of the two different underlying genetic diseases; (B) two patients with overlapping clinical features that may be underpinned by both the identified genetic variations. Notably, only in one case a multilocus genomic variation was already suspected during the clinical evaluation. Overall, our findings highlight how dual molecular diagnoses represent a challenging model of complex inheritance that should always be considered whenever a patient shows atypical clinical features. Indeed, an accurate genetic characterisation is of the utmost importance to provide patients with a personalised and safe clinical management. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 13112023 2073-4425 |
| العلاقة: | https://www.mdpi.com/2073-4425/13/11/2023Test; https://doaj.org/toc/2073-4425Test |
| DOI: | 10.3390/genes13112023 |
| الوصول الحر: | https://doaj.org/article/bb855db63c164a25862519c3958679a0Test |
| رقم الانضمام: | edsdoj.bb855db63c164a25862519c3958679a0 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 13112023 20734425 |
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| DOI: | 10.3390/genes13112023 |