De novo Alu-element insertions in FGFR2 (ital) identify a distinct pathological basis for Apert syndrome
Article Abstract:
Apert syndrome, a craniosynostosis syndrome resulting from allelic mutations of fibroblast growth-factor receptor 2 ('FGFR2), has a distinct pathological basis. There are de novo Alu-element insertions in FGFR2. All but 2 of 260 unrelated patients analyzed have missense mutations in exon 7. They affect a dipeptide in the linker region between the second and third immunoglobulin-like domains. The other two have FGFR2 mutations distinct in position and nature. In each there is an Alu-element insertion of about 360 bp, one just upstream from exon 9 and the other in exon 9. They arose de novo on paternal chromosomes in both cases. There is genetic evidence of signaling through KGFR causing syndactyly in the syndrome.
author: Johnson, David, Wilkie, Andrew O.M., Twigg, Stephen R.F., Wall, Steven A., Zackai, Elaine H., Oldridge, Michael, Jiang, Wen, McDonald-McGinn, Donna M., Iseki, Sachiko, Morriss-Kay, Gillian M., Theda, Christiane, Jabs, Ethylin Wang
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1999
United Kingdom, Usage, Birth defects, Chromosome mapping, Mutation (Biology), Mutation, Genetic disorders
The origin of EFNB1 mutations in craniofrontonasal syndrome: Frequent somatic mosaicism and explanation of the paucity of carrier males
Article Abstract:
The discovery of causative mutations in the EFNB1 gene is exploited, which encodes ephrin-B1, to survey the molecular alterations in 59 families. Somatic mosaicism was demonstrated in 6 of 53 informative families, and of 17 germline mutations in individuals for whom the parental origin of mutation could be demonstrated, 15 arose from the father.
author: Brunner, Han G., Wilkie, Andrew O.M., Mulliken, John B., Twigg, Stephen R.F., Matsumoto, Kazuya, Kidd, Alexa M.J., Goriely, Anne, Taylor, Indira B., Fisher, Richard B., Hoogeboom, A., Jeannette M., Mathijssen, Irene M.J., Lourenco, M. Teresa, Morton, Jenny E.V., Sweeney, Elizabeth, Wilson, Louise C., Wall, Steven A.
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2006
Health aspects, Mosaicism
RAB23 mutations in Carpenter syndrome imply an unexpected role for Hedgehog signaling in cranial-suture development and obesity
Article Abstract:
RAB23 mutations in Carpenter syndrome were studied. Homozygosity mapping was used and linkages to chromosome 6p12.1-q12 and five different mutations were identified in RAB23.
author: Wilkie, Andrew O.M., Mathijssen, Irene M.J., Morton, Jenny E.V., Sweeney, Elizabeth, Wall, Steven A., Nurnberg, Peter, Jenkins, Dagan, Seelow, Dominik, Jehee, Fernanda S., Marsh, Jeffrey L., Passos-Bueno, Maria Rita, Perlyn, Chad A., Alonso, Luis G., Bueno, Daniela F., Donnai, Dian, Josifiova, Dragana, Orstavik, Karen Helene
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
Cellular signal transduction, Pleiotropy, Craniofacial abnormalities, Report
subjects list: Research, United States, Gene mutations, Gene mutation, Genetic aspects
This website is not affiliated with document authors or copyright owners. This page is provided for informational purposes only. Unintentional errors are possible.