دورية أكاديمية
Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth
| العنوان: | Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth |
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| المؤلفون: | Douglas, Jenny, Cilliers, Deirdre, Coleman, Kim, Tatton-Brown, Katrina, Barker, Karen, Bernhard, Brigitte, Burn, John, Huson, Susan, Josifova, Dragana, Lacombe, Didier, Malik, Mohsin, Mansour, Sahar, Reid, Evan, Cormier-Daire, Valerie, Cole,Trevor, The Childhood Overgrowth Collaboration, Rahman, Nazeen, Zankl, A. |
| بيانات النشر: | Nature Publishing Group for the Institute of Human Genetics |
| سنة النشر: | 2007 |
| المجموعة: | The University of Queensland: UQ eSpace |
| مصطلحات موضوعية: | Learning disabilities, Mutations Affecting Development, Dysmorphology, Neurofibromatosis, 11 Medical and Health Sciences, 1114 Paediatrics and Reproductive Medicine |
| الوصف: | 17q11 microdeletions that encompass NF1 cause 5%-10% of cases of neurofibromatosis type 1, and individuals with microdeletions are typically taller than individuals with intragenic NF1 mutations, suggesting that deletion of a neighboring gene might promote human growth. We identified mutations in RNF135, which is within the NF1 microdeletion region, in six families characterized by overgrowth, learning disability, dysmorphic features and variable additional features. These data identify RNF135 as causative of a new overgrowth syndrome and demonstrate that RNF135 haploinsufficiency contributes to the phenotype of NF1 microdeletion cases. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 1061-4036 1546-1718 |
| العلاقة: | orcid:0000-0001-8612-1062 |
| الإتاحة: | https://doi.org/10.1038/ng2083Test https://espace.library.uq.edu.au/view/UQ:194972Test |
| رقم الانضمام: | edsbas.A853C5E7 |
| قاعدة البيانات: | BASE |
| تدمد: | 10614036 15461718 |
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