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| 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 | | Language: | English | | Date of Publication (YYYY-MM-DD): | 2006-08 | | Title of Journal: | American Journal of Human Genetics (Chicago, IL) | | Journal Abbrev.: | Am J Hum Genet | | Volume: | 79 | | 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.)
| | Identifiers: | ISSN:0002-9297 |
| Full Text: |
| You have privileges to view the following file(s): |
| Woods.pdf [912,00 Kb] |
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