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Article

Hypomorphic mutations of TRIP11 cause odontochondrodysplasia

6 Feb 2019

Abstract excerpt

Odontochondrodysplasia (ODCD) is an unresolved genetic disorder of skeletal and dental development. Here, we show that ODCD is caused by hypomorphic TRIP11 mutations, and we identify ODCD as the nonlethal counterpart to achondrogenesis 1A (ACG1A), the known null phenotype in humans. TRIP11 encodes Golgi-associated microtubule-binding protein 210 (GMAP-210), an essential tether protein of the Golgi apparatus that...

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PMID: 30728324
DOI: 10.1172/jci.insight.124701

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