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  Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome

Ehmke, N., Caliebe, A., Koenig, R., Kant, S. G., Stark, Z., Cormier-Daire, V., et al. (2014). Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome. The American Journal of Human Genetics, 95(6), 763-770. doi:10.1016/j.ajhg.2014.11.004.

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Item Permalink: https://hdl.handle.net/11858/00-001M-0000-0025-7848-D Version Permalink: https://hdl.handle.net/11858/00-001M-0000-0025-7849-B
Genre: Journal Article

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© 2014 Elsevier B.V.
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http://www.ncbi.nlm.nih.gov/pubmed/25480037 (Any fulltext)
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 Creators:
Ehmke, N., Author
Caliebe, A., Author
Koenig, R., Author
Kant, S. G., Author
Stark, Z., Author
Cormier-Daire, V., Author
Wieczorek, D., Author
Gillessen-Kaesbach, G., Author
Hoff, K., Author
Kawalia, A., Author
Thiele, H., Author
Altmuller, J., Author
Fischer-Zirnsak, B.1, Author
Knaus, A.1, Author
Zhu, N., Author
Heinrich, V., Author
Huber, C., Author
Harabula, I.1, Author
Spielmann, M.2, Author           
Horn, D., Author
Kornak, U.2, Author           Hecht, J.2, Author           Krawitz, P. M.1, AuthorNurnberg, P., AuthorSiebert, R., AuthorManzke, H., AuthorMundlos, S.2, Author            more..
Affiliations:
1Max Planck Society, ou_persistent13              
2Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              

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 Abstract: Catel-Manzke syndrome is characterized by Pierre Robin sequence and a unique form of bilateral hyperphalangy causing a clinodactyly of the index finger. We describe the identification of homozygous and compound heterozygous mutations in TGDS in seven unrelated individuals with typical Catel-Manzke syndrome by exome sequencing. Six different TGDS mutations were detected: c.892A>G (p.Asn298Asp), c.270_271del (p.Lys91Asnfs( *)22), c.298G>T (p.Ala100Ser), c.294T>G (p.Phe98Leu), c.269A>G (p.Glu90Gly), and c.700T>C (p.Tyr234His), all predicted to be disease causing. By using haplotype reconstruction we showed that the mutation c.298G>T is probably a founder mutation. Due to the spectrum of the amino acid changes, we suggest that loss of function in TGDS is the underlying mechanism of Catel-Manzke syndrome. TGDS (dTDP-D-glucose 4,6-dehydrogenase) is a conserved protein belonging to the SDR family and probably plays a role in nucleotide sugar metabolism.

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Language(s): eng - English
 Dates: 2014-12-042014-12-04
 Publication Status: Issued
 Pages: -
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 Table of Contents: -
 Rev. Type: Peer
 Identifiers: DOI: 10.1016/j.ajhg.2014.11.004
ISSN: 1537-6605 (Electronic)0002-9297 (Print)
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Title: The American Journal of Human Genetics
  Other : Am. J. Hum. Genet.
Source Genre: Journal
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Publ. Info: American Society of Human Genetics
Pages: - Volume / Issue: 95 (6) Sequence Number: - Start / End Page: 763 - 770 Identifier: ISSN: 0002-9297
CoNE: https://pure.mpg.de/cone/journals/resource/954925377893_1