دورية أكاديمية
TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families
| العنوان: | TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families |
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| المؤلفون: | Andreucci, E., Aftimos, S., Alcausin, M., Haan, E., Hunter, W., Kannu, P., Kerr, B., McGillivray, G., McKinlay Gardner, R., Patricelli, M., Sillence, D., Thompson, E., Zacharin, M., Zankl, A., Lamande, S., Savarirayan, R. |
| المصدر: | http://dx.doi.org/10.1186/1750-1172-6-37Test. |
| بيانات النشر: | BioMed Central Ltd |
| سنة النشر: | 2011 |
| المجموعة: | The University of Adelaide: Digital Library |
| مصطلحات موضوعية: | TRPV4, Metatropic Dysplasia (MD), Autosomal Dominant Brachyolmia (ADBO), Spondilometaphyseal Dysplasia Kozlowski Type (SMDK) |
| الوصف: | Extent: 8p. ; Background: The TRPV4 gene encodes a calcium-permeable ion-channel that is widely expressed, responds to many different stimuli and participates in an extraordinarily wide range of physiologic processes. Autosomal dominant brachyolmia, spondylometaphyseal dysplasia Kozlowski type (SMDK) and metatropic dysplasia (MD) are currently considered three distinct skeletal dysplasias with some shared clinical features, including short stature, platyspondyly, and progressive scoliosis. Recently, TRPV4 mutations have been found in patients diagnosed with these skeletal phenotypes. Methods and Results: We critically analysed the clinical and radiographic data on 26 subjects from 21 families, all of whom had a clinical diagnosis of one of the conditions described above: 15 with MD; 9 with SMDK; and 2 with brachyolmia. We sequenced TRPV4 and identified 9 different mutations in 22 patients, 4 previously described, and 5 novel. There were 4 mutation-negative cases: one with MD and one with SMDK, both displaying atypical clinical and radiographic features for these diagnoses; and two with brachyolmia, who had isolated spine changes and no metaphyseal involvement. Conclusions: Our data suggest the TRPV4 skeletal dysplasias represent a continuum of severity with areas of phenotypic overlap, even within the same family. We propose that AD brachyolmia lies at the mildest end of this spectrum and, since all cases described with this diagnosis and TRPV4 mutations display metaphyseal changes, we suggest that it is not a distinct entity but represents the mildest phenotypic expression of SMDK. ; Elena Andreucci, Salim Aftimos, Melanie Alcausin, Eric Haan, Warwick Hunter, Peter Kannu, Bronwyn Kerr, George McGillivray, RJ McKinlay Gardner, Maria G Patricelli, David Sillence, Elizabeth Thompson, Margaret Zacharin, Andreas Zankl, Shireen R Lamandé and Ravi Savarirayan |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 1750-1172 |
| العلاقة: | Orphanet Journal of Rare Diseases, 2011; 6(1):1-8; http://hdl.handle.net/2440/70079Test; Haan, E. [0000-0002-7310-5124] |
| DOI: | 10.1186/1750-1172-6-37 |
| الإتاحة: | https://doi.org/10.1186/1750-1172-6-37Test http://hdl.handle.net/2440/70079Test |
| حقوق: | © 2011 Andreucci et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0Test), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
| رقم الانضمام: | edsbas.224520C0 |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 17501172 |
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| DOI: | 10.1186/1750-1172-6-37 |