| Literature DB >> 25480037 |
Nadja Ehmke1, Almuth Caliebe2, Rainer Koenig3, Sarina G Kant4, Zornitza Stark5, Valérie Cormier-Daire6, Dagmar Wieczorek7, Gabriele Gillessen-Kaesbach8, Kirstin Hoff9, Amit Kawalia10, Holger Thiele10, Janine Altmüller11, Björn Fischer-Zirnsak12, Alexej Knaus12, Na Zhu13, Verena Heinrich13, Celine Huber6, Izabela Harabula14, Malte Spielmann12, Denise Horn13, Uwe Kornak15, Jochen Hecht15, Peter M Krawitz15, Peter Nürnberg16, Reiner Siebert2, Hermann Manzke17, Stefan Mundlos18.
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.Entities:
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Year: 2014 PMID： 25480037 PMCID： PMC4259972 DOI： 10.1016/j.ajhg.2014.11.004
Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025