دورية
Dominant TRPV4mutations in nonlethal and lethal metatropic dysplasiaHow to cite this article: Camacho N, Krakow D, Johnykutty S, Katzman PJ, Pepkowitz S, Vriens J, Nilius B, Boyce BF, Cohn DH. 2010. Dominant TRPV4mutations in nonlethal and lethal metatropic dysplasia. Am J Med Genet Part A 152A:1169–1177.
| العنوان: | Dominant TRPV4mutations in nonlethal and lethal metatropic dysplasiaHow to cite this article: Camacho N, Krakow D, Johnykutty S, Katzman PJ, Pepkowitz S, Vriens J, Nilius B, Boyce BF, Cohn DH. 2010. Dominant TRPV4mutations in nonlethal and lethal metatropic dysplasia. Am J Med Genet Part A 152A:1169–1177. |
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| المؤلفون: | Camacho, Natalia, Krakow, Deborah, Johnykutty, Sharlin, Katzman, Philip J., Pepkowitz, Samuel, Vriens, Joris, Nilius, Bernd, Boyce, Brendan F., Cohn, Daniel H. |
| المصدر: | American Journal of Medical Genetics. Part A; May 2010, Vol. 152 Issue: 5 p1169-1177, 9p |
| مستخلص: | Metatropic dysplasia is a clinical heterogeneous skeletal dysplasia characterized by short extremities, a short trunk with progressive kyphoscoliosis, and craniofacial abnormalities that include a prominent forehead, midface hypoplasia, and a squaredoff jaw. Dominant mutations in the gene encoding TRPV4, a calcium permeable ion channel, were identified all 10 of a series of metatropic dysplasia cases, ranging in severity from mild to perinatal lethal. These data demonstrate that the lethal form of the disorder is dominantly inherited and suggest locus homogeneity in the disease. Electrophysiological studies demonstrated that the mutations activate the channel, indicating that the mechanism of disease may result from increased calcium in chondrocytes. Histological studies in two cases of lethal metatropic dysplasia revealed markedly disrupted endochondral ossification, with reduced numbers of hypertrophic chondrocytes and presence of islands of cartilage within the zone of primary mineralization. These data suggest that altered chondrocyte differentiation in the growth plate leads to the clinical findings in metatropic dysplasia. © 2010 WileyLiss, Inc. |
| قاعدة البيانات: | Supplemental Index |
| تدمد: | 15524825 15524833 |
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| DOI: | 10.1002/ajmg.a.33392 |