English
 
User Manual Privacy Policy Disclaimer Contact us
  Advanced SearchBrowse

Item

ITEM ACTIONSEXPORT
  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.

Item is

Basic

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

Files

show Files
hide Files
:
Ehmke.pdf (Publisher version), 1004KB
Name:
Ehmke.pdf
Description:
-
Visibility:
Public
MIME-Type / Checksum:
application/pdf / [MD5]
Technical Metadata:
Copyright Date:
-
Copyright Info:
© 2014 Elsevier B.V.
License:
-

Locators

show
hide
Description:
-

Creators

show
hide
 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              

Content

show
hide
Free keywords: -
 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.

Details

show
hide
Language(s): eng - English
 Dates: 2014-12-042014-12-04
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Method: Peer
 Identifiers: DOI: 10.1016/j.ajhg.2014.11.004
ISSN: 1537-6605 (Electronic)0002-9297 (Print)
 Degree: -

Event

show

Legal Case

show

Project information

show

Source 1

show
hide
Title: The American Journal of Human Genetics
  Other : Am. J. Hum. Genet.
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: American Society of Human Genetics
Pages: - Volume / Issue: 95 (6) Sequence Number: - Start / End Page: 763 - 770 Identifier: ISSN: 0002-9297
CoNE: /journals/resource/954925377893_1