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  Mutations in WNT7A Cause a Range of Limb Malformations, Including Fuhrmann Syndrome and Al-Awadi/Raas-Rothschild/Schinzel Phocomelia Syndrome

Woods, C. G., Stricker, S., Seemann, P., Stern, R., Cox, J., Sherridan, E., et al. (2006). Mutations in WNT7A Cause a Range of Limb Malformations, Including Fuhrmann Syndrome and Al-Awadi/Raas-Rothschild/Schinzel Phocomelia Syndrome. American Journal of Human Genetics (Chicago, IL), 79(2), 402-408.

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Item Permalink: https://hdl.handle.net/11858/00-001M-0000-0010-83DC-7 Version Permalink: https://hdl.handle.net/11858/00-001M-0000-0010-83DD-5
Genre: Journal Article
Alternative Title : Am J Hum Genet

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Woods, C. G., Author
Stricker, S.1, Author           
Seemann, P.1, Author           
Stern, R., Author
Cox, J., Author
Sherridan, E., Author
Roberts, E., Author
Springell, K., Author
Scott, S., Author
Karbani, G., Author
Sharif, S. M., Author
Toomes, C., Author
Bond, J., Author
Kumar, D., Author
Al-Gazali, L., Author
Mundlos, Stefan1, Author           
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              

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 Abstract: 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.

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Language(s): eng - English
 Dates: 2006-08
 Publication Status: Issued
 Pages: -
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 Rev. Type: -
 Identifiers: eDoc: 313095
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Title: American Journal of Human Genetics (Chicago, IL)
  Alternative Title : Am J Hum Genet
Source Genre: Journal
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Pages: - Volume / Issue: 79 (2) Sequence Number: - Start / End Page: 402 - 408 Identifier: ISSN: 0002-9297