A large-scale mutation search reveals genetic heterogeneity in 3M syndrome
| Autor: | Arnold Munnich, Fabien Guimiot, H. Plauchu, Maria-Luisa Giovannucci-Uzielli, Patrick Edery, Anee-Lise Delezoide, Luitgard Graul-Neumann, Massimiliano Rossi, Carl-Joachim Partsch, Valérie Malan, Judith Melki, Pierre Chatelain, Thomas Edouard, Kate Gibson, Robin D. Clark, Martin Zenker, Helen Stewart, Johana-Maria van Hagen, Liselot P. van Hest, Gabriele Gillessen-Kaesbach, Clarisse Baumann, Martine Le Merrer, Helen Cox, Anna Rajab, Carol Chu, Elisabeth Steichen-Gersdorf, Valérie Cormier-Daire, Céline Huber, Dominique Bonneau, Daniela Bezerra Da Silva, Virginia Fano, Sheila Unger, Dafne Horovitz, David Sillence |
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| Přispěvatelé: | Human genetics, Other Research |
| Rok vydání: | 2008 |
| Předmět: |
Male
Short Report Genes Recessive Locus (genetics) Consanguinity Biology Genetic Heterogeneity Fetus Genetics medicine Humans Abnormalities Multiple Family Child Gene Genetics (clinical) Isodisomy Genetic diversity Fetal Growth Retardation Genetic heterogeneity Postnatal growth retardation Syndrome Cullin Proteins medicine.disease Radiography Child Preschool Mutation 3-M syndrome |
| Zdroj: | European Journal of Human Genetics, 17(3), 395-400. Nature Publishing Group Huber, C, Delezoide, A L, Guimiot, F, Baumann, C, Malan, V, Le Merrer, M, Da Silva, D B, Bonneau, D, Chatelain, P, Chu, C, Clark, R, Cox, H, Edery, P, Edouard, T, Fano, V, Gibson, K, Gillessen-Kaesbach, G, Giovannucci-Uzielli, M L, Graul-Neumann, L M, van Hagen, J M, van Hest, L P, Horovitz, D, Melki, J, Partsch, C J, Plauchu, H, Rajab, A, Rossi, M, Sillence, D, Steichen-Gersdorf, E, Stewart, H, Unger, S, Zenker, M, Munnich, A & Cormier-Daire, V 2009, ' A large-scale mutation search reveals genetic heterogeneity in 3M syndrome ', European Journal of Human Genetics, vol. 17, no. 3, pp. 395-400 . https://doi.org/10.1038/ejhg.2008.200 |
| ISSN: | 1476-5438 1018-4813 |
| DOI: | 10.1038/ejhg.2008.200 |
| Popis: | The 3M syndrome is a rare autosomal recessive disorder recently ascribed to mutations in the CUL7 gene and characterized by severe pre- and postnatal growth retardation. Studying a series of 33 novel cases of 3M syndrome, we have identified deleterious CUL7 mutations in 23/33 patients, including 19 novel mutations and one paternal isodisomy of chromosome 6 encompassing a CUL7 mutation. Lack of mutations in 10/33 cases and exclusion of the CUL7 locus on chromosome 6p21.1 in six consanguineous families strongly support the genetic heterogeneity of the 3M syndrome. |
| Databáze: | OpenAIRE |
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