Please note that eDoc will be permanently shut down in the first quarter of 2021!      Home News About Us Contact Contributors Disclaimer Privacy Policy Help FAQ

Quick Search
My eDoc
Session History
Support Wiki
Direct access to
document ID:

          Institute: MPI für molekulare Genetik     Collection: Research Group Development and Disease     Display Documents

ID: 313095.0, MPI für molekulare Genetik / Research Group Development and Disease
Mutations in WNT7A Cause a Range of Limb Malformations, Including Fuhrmann Syndrome and Al-Awadi/Raas-Rothschild/Schinzel Phocomelia Syndrome
Authors:Woods, C. G.; Stricker, S.; Seemann, P.; Stern, R.; Cox, J.; Sherridan, E.; Roberts, E.; Springell, K.; Scott, S.; Karbani, G.; Sharif, S. M.; Toomes, C.; Bond, J.; Kumar, D.; Al-Gazali, L.; Mundlos, Stefan
Date of Publication (YYYY-MM-DD):2006-08
Title of Journal:American Journal of Human Genetics (Chicago, IL)
Journal Abbrev.:Am J Hum Genet
Issue / Number:2
Start Page:402
End Page:408
Copyright:© 2006 by The American Society of Human Genetics
Review Status:not specified
Audience:Experts Only
Abstract / Description:Fuhrmann syndrome and the Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome are considered to be distinct limb-malformation disorders characterized by various degrees of limb aplasia/hypoplasia and joint dysplasia in humans. In families with these syndromes, we found homozygous missense mutations in the dorsoventral-patterning gene WNT7A and confirmed their functional significance in retroviral-mediated transfection of chicken mesenchyme cell cultures and developing limbs. The results suggest that a partial loss of WNT7A function causes Fuhrmann syndrome (and a phenotype similar to mouse Wnt7a knockout), whereas the more-severe limb truncation phenotypes observed in Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome result from null mutations (and cause a phenotype similar to mouse Shh knockout). These findings illustrate the specific and conserved importance of WNT7A in multiple aspects of vertebrate limb development.
External Publication Status:published
Document Type:Article
Version Comment:Automatic journal name synchronization
Communicated by:Stefan Mundlos
Affiliations:MPI für molekulare Genetik
External Affiliations:Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom (C.G.W.; R.S.; J.C.); Max-Planck Institute for Molecular Genetics and Institute for Medical Genetics, Charité, Berlin (S. Stricker; P.S.; S.M.); Department of Clinical Genetics (E.S.; G.K.; S.M.S.) and Section of Ophthalmology and Neuroscience, Leeds Institute of Molecular Medicine (E.R.; K.S.; S. Scott; C.T.; J.B.), St James's University Hospital, Leeds, United Kingdom;
Centre for Human Genetics, Sheffield Children's Hospital, Sheffield, United Kingdom (D.K.);
Department of Paediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al-Anin, United Arab Emirates (L.A.-G.)
Full Text:
You have privileges to view the following file(s):
Woods.pdf  [912,00 Kb]   
The scope and number of records on eDoc is subject to the collection policies defined by each institute - see "info" button in the collection browse view.