Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes
Article Abstract:
A description is provided of four unrelated children who were referred to two tertiary referral medical genetic units between 1991 and 2005 and who are affected with juvenile polyposis of infancy. It is shown that these children are heretozygous for a germline deletion encompassing two contiguous genes, PTEN and BMPR1A.
author: Fryns, Jean-Pierre, Eng, Charis, Delnatte, Capucine, Sanlaville, Damien, Mougenot, Jean-Francois, Vermeesch, Joris-Robert, Houdayer, Claude, de Blois, Marie-Christine, Genevieve, David, Goulet, Oliver, Jaubert, Francis, Vekemans, Michael, Lyonnet, Stanislas, Romana, Serge, Stoppa-Lyonnet, Dominique
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2006
United States, Tumor suppressor genes, Chromosome deletion, Polyposis, Familial, Familial polyposis, Tumour suppressor genes
Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome
Article Abstract:
A comprehensive mutation analysis of the euchromatin histone methyl transferase 1 gene (EHMT1) gene is performed in patients with clinical presentation reminiscent of 9q subtelomeric deletion syndrome. The results have shown that haploinsufficiency of EHMT1 is causative for 9q subtelomeric deletion syndrome.
author: Fryns, Jean-Pierre, Brunner, Han G., Hamel, Ben C.J., Genevieve, David, Kleefstra, Tjitske, Oudakker, Astrid R., Amiel, Jeanne, Nillesen, Willy M., Magee, Alex, Cormier-Daire, Valerie, van Esch, Hilde, Sistermans, Erik A., de Vries, Bert B.A.
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2006
Gene mutations, Gene mutation, Chromatin, Genetic research
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation
Article Abstract:
The article discusses the submicroscopic copy-number imbalances of different genes that sever genetic diseases in humans. The results show that the duplications of the hydroxysteroid dehydrogenase HSD17810 and the E3 ubiquitin ligase HUWE1 majorly contribute to the onset of mental retardation in patients.
author: Froyen, Guy, Van Esch, Hilde, Fryns, Jean-Pierre, Field, Michael, Schwartz, Charles E., Ropers, Hans-Hilger, Marynen, Peter, Stratton, Michael R., Futreal, P. Andrew, Turner, Gillian, Jarvela, Irma, Raymond, F. Lucy, Sanlaville, Damien, van Bokhoven, Hans, Tarpey, Patrick S., Partington, Michael, Gecz, Jozef, Laumonnier, Frederic, Corbett, Mark, Vandewalle, Joke, Lawrence, Owen, Meldrum, Cliff, Bauters, Marijke, Govaerts, Karen, Vandeleur, Lucianne, Chelly, Jamel, Ranieri, Enzo, Abidi, Fatima, Whibley, Annabel, Scott, Rodney, Peippo, Maarit, Sipponen, Marjatta, Mowat, David, Hackett, Anna
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2008
Genetic aspects, Mental retardation, Ligases
subjects list: Research
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