Ontology highlight
ABSTRACT:
SUBMITTER: Poulter JA
PROVIDER: S-EPMC3959822 | biostudies-literature | 2014 Apr
REPOSITORIES: biostudies-literature
Poulter James A JA Brookes Steven J SJ Shore Roger C RC Smith Claire E L CE Abi Farraj Layal L Kirkham Jennifer J Inglehearn Chris F CF Mighell Alan J AJ
Human molecular genetics 20131206 8
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. Furthermore, a recent study revealed that mice lacking a functional allele of Itgb6 ...[more]