ArticleAmerican journal of human genetics2014
Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.
Article in American journal of human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 49 citations in OpenAlex.
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- The Pathogenesis of Pierre Robin Sequence through a Review of SOX9 and Its Interactions.Plastic and reconstructive surgery. Global open · 2022Article
- Dynamic tracing of sugar metabolism reveals the mechanisms of action of synthetic sugar analogs.Glycobiology · 2022Article
- First Report of Two Egyptian Patients with Desbuquois Dysplasia due to HomozygousMolecular syndromology · 2021Article
- A Homozygous Deletion of Exon 5 ofGenes · 2021Article
- Genetic Mutations Associated with Pierre Robin Syndrome/Sequence: A Systematic Review.Molecular syndromology · 2021Review
- Chondrodysplasias With Multiple Dislocations Caused by Defects in Glycosaminoglycan Synthesis.Frontiers in genetics · 2021Review
- Genetics and signaling mechanisms of orofacial clefts.Birth defects research · 2020Review
- VarFish: comprehensive DNA variant analysis for diagnostics and research.Nucleic acids research · 2020Article
- Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes.Experimental eye research · 2020Review
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Authors and funding
27 authors at 11 institutions in 4 countries.
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No grant is acknowledged in the PubMed record.
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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