English
 
User Manual Privacy Policy Disclaimer Contact us
  Advanced SearchBrowse

Item

ITEM ACTIONSEXPORT
  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.

Item is

Basic

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

Files

show Files
hide Files
:
Woods.pdf (Any fulltext), 913KB
Name:
Woods.pdf
Description:
-
Visibility:
Public
MIME-Type / Checksum:
application/pdf / [MD5]
Technical Metadata:
Copyright Date:
-
Copyright Info:
eDoc_access: PUBLIC
License:
-

Locators

show

Creators

show
hide
 Creators:
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              

Content

show
hide
Free keywords: -
 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.

Details

show
hide
Language(s): eng - English
 Dates: 2006-08
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Method: -
 Identifiers: eDoc: 313095
 Degree: -

Event

show

Legal Case

show

Project information

show

Source 1

show
hide
Title: American Journal of Human Genetics (Chicago, IL)
  Alternative Title : Am J Hum Genet
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: -
Pages: - Volume / Issue: 79 (2) Sequence Number: - Start / End Page: 402 - 408 Identifier: ISSN: 0002-9297