Ehmke, Nadja, Caliebe, Almuth ORCID: 0000-0003-2157-425X, Koenig, Rainer, Kant, Sarina G., Stark, Zornitza, Cormier-Daire, Valerie, Wieczorek, Dagmar ORCID: 0000-0003-2812-6492, Gillessen-Kaesbach, Gabriele, Hoff, Kirstin, Kawalia, Amit, Thiele, Holger, Altmueller, Janine, Fischer-Zirnsak, Bjoern, Knaus, Alexej, Zhu, Na ORCID: 0000-0001-6460-3087, Heinrich, Verena, Huber, Celine, Harabula, Izabela, Spielmann, Malte ORCID: 0000-0002-0583-4683, Horn, Denise, Komak, Uwe, Hecht, Jochen, Krawitz, Peter M., Nuernberg, Peter, Siebert, Reiner, Manzke, Hermann and Mundlos, Stefan (2014). Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome. Am. J. Hum. Genet., 95 (6). S. 763 - 771. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

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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.A1a100Ser), c.294T>G (p.Phe98Leu), c.269A>G (p.G1u90Gly), 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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Ehmke, NadjaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Caliebe, AlmuthUNSPECIFIEDorcid.org/0000-0003-2157-425XUNSPECIFIED
Koenig, RainerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kant, Sarina G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Stark, ZornitzaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cormier-Daire, ValerieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wieczorek, DagmarUNSPECIFIEDorcid.org/0000-0003-2812-6492UNSPECIFIED
Gillessen-Kaesbach, GabrieleUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hoff, KirstinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kawalia, AmitUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Thiele, HolgerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Altmueller, JanineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fischer-Zirnsak, BjoernUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Knaus, AlexejUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zhu, NaUNSPECIFIEDorcid.org/0000-0001-6460-3087UNSPECIFIED
Heinrich, VerenaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Huber, CelineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Harabula, IzabelaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Spielmann, MalteUNSPECIFIEDorcid.org/0000-0002-0583-4683UNSPECIFIED
Horn, DeniseUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Komak, UweUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hecht, JochenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Krawitz, Peter M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nuernberg, PeterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Siebert, ReinerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Manzke, HermannUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mundlos, StefanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-420900
DOI: 10.1016/j.ajhg.2014.11.004
Journal or Publication Title: Am. J. Hum. Genet.
Volume: 95
Number: 6
Page Range: S. 763 - 771
Date: 2014
Publisher: CELL PRESS
Place of Publication: CAMBRIDGE
ISSN: 1537-6605
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
PIERRE-ROBIN SYNDROME; INDEX FINGER; PROTEOGLYCAN SYNTHESIS; CHONDROITIN SYNTHASE; ACCESSORY METACARPAL; SEQUENCING DATA; CLEFT-PALATE; HYPERPHALANGISM; PHENOTYPE; ANOMALIESMultiple languages
Genetics & HeredityMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/42090

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