Article
A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta.
Human molecular genetics - 15 Apr 2014
Poulter James A, Brookes Steven J, Shore Roger C, Smith Claire E L, Abi Farraj Layal, Kirkham Jennifer, Inglehearn Chris F, Mighell Alan J
Abstract excerpt
We identified a family in which pitted hypomineralized amelogenesis imperfecta (AI) with premature enamel failure segregated in an autosomal recessive fashion. Whole-exome sequencing revealed a missense mutation (c.586C>A, p.P196T) in the I-domain of integrin-β6 (ITGB6), which is consistently predicted to be pathogenic by all available programmes and is the only variant that segregates with the disease phenotype....
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