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  Deletion and point mutations of PTHLH cause brachydactyly type E.

Klopocki, E., Hennig, B. P., Dathe, K., Koll, R., de Ravel, T., Baten, E., et al. (2010). Deletion and point mutations of PTHLH cause brachydactyly type E. The American Journal of Human Genetics, 86(3), 434-439. doi:10.1016/j.ajhg.2010.01.023.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7B9A-D Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7B9B-B
Genre: Journal Article
Alternative Title : Am J Hum Genet

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Klopocki, E.1, Author              
Hennig, B. P., Author
Dathe, K., Author
Koll, R., Author
de Ravel, T., Author
Baten, E., Author
Blom, E., Author
Gillerot, Y., Author
Weigel, J. F., Author
Krüger, G., Author
Hiort, O., Author
Seemann, P.1, Author              
Mundlos, S.1, 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: Autosomal-dominant brachydactyly type E (BDE) is a congenital limb malformation characterized by small hands and feet predominantly as a result of shortened metacarpals and metatarsals. In a large pedigree with BDE, short stature, and learning disabilities, we detected a microdeletion of approximately 900 kb encompassing PTHLH, the gene coding for parathyroid hormone related protein (PTHRP). PTHRP is known to regulate the balance between chondrocyte proliferation and the onset of hypertrophic differentiation during endochondral bone development. Inactivation of Pthrp in mice results in short-limbed dwarfism because of premature differentiation of chondrocyte. On the basis of our initial finding, we tested further individuals with BDE and short stature for mutations in PTHLH. We identified two missense (L44P and L60P), a nonstop (X178WextX( *)54), and a nonsense (K120X) mutation. The missense mutation L60P was tested in chicken micromass culture with the replication-competent avian sarcoma leukosis virus retroviral expression system and was shown to result in a loss of function. Thus, loss-of-function mutations in PTHLH cause BDE with short stature.

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Language(s): eng - English
 Dates: 2010-03-12
 Publication Status: Published in print
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Title: The American Journal of Human Genetics
  Alternative Title : Am J Hum Genet
Source Genre: Journal
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Pages: - Volume / Issue: 86 (3) Sequence Number: - Start / End Page: 434 - 439 Identifier: ISSN: 0002-9297