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          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.)
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