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  Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia

Flöttmann, R., Sowinska-Seidler, A., Lavie, J., Chateil, J. F., Lacombe, D., Mundlos, S., et al. (2016). Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia. European journal of human genetics, 24(8), 1132-1136. doi:10.1038/ejhg.2015.266.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-002E-1DCB-3 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-002E-1DCC-1
Genre: Journal Article

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© 2016 European Society of Human Genetics
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Flöttmann, R., Author
Sowinska-Seidler, A., Author
Lavie, J., Author
Chateil, J. F., Author
Lacombe, D., Author
Mundlos, S.1, Author              
Horn, D., Author
Spielmann, M.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: Parathyroid hormone-like hormone (PTHLH, MIM 168470) plays an important role in endochondral bone development and prevents chondrocytes from differentiating. Disease-causing variants and haploinsufficiency of PTHLH are known to cause brachydactyly type E and short stature. So far, three large duplications encompassing several genes including PTHLH associating with enchondromatas and acro-osteolysis have been described in the literature. Here, we report on a three-generation pedigree with short humerus, curved radius, and a specific type of severe brachydactyly with features of types E and A1 but without the enchondromatas and the acro-osteolysis. Microarray-based comparative genomic hybridization (array-CGH) revealed a 70-kb duplication on chromosome 12p11.22 encompassing only PTHLH. Our data extend the phenotypic spectrum associated with copy number variations of PTHLH, and this family is to our knowledge the first description harboring a microduplication encompassing only PTHLH.

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Language(s): eng - English
 Dates: 2016-01-062016-08
 Publication Status: Published in print
 Pages: 5
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 Table of Contents: -
 Rev. Method: -
 Identifiers: DOI: 10.1038/ejhg.2015.266
ISSN: 1476-5438 (Electronic)1018-4813 (Print)
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Title: European journal of human genetics
  Other : Eur. J. Hum. Genet.
Source Genre: Journal
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Publ. Info: Nature Publishing Group
Pages: - Volume / Issue: 24 (8) Sequence Number: - Start / End Page: 1132 - 1136 Identifier: ISSN: 1018-4813
CoNE: /journals/resource/954925585277_1