Article
Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta.
American journal of human genetics - 7 Feb 2013
Parry David A, Poulter James A, Logan Clare V, Brookes Steven J, Jafri Hussain, Ferguson Christopher H, Anwari Babra M, Rashid Yasmin, Zhao Haiqing, Johnson Colin A, Inglehearn Chris F, Mighell Alan J
Abstract excerpt
A combination of autozygosity mapping and exome sequencing identified a null mutation in SLC24A4 in a family with hypomineralized amelogenesis imperfect a (AI), a condition in which tooth enamel formation fails. SLC24A4 encodes a calcium transporter upregulated in ameloblasts during the maturation stage of amelogenesis. Screening of further AI families identified a missense mutation in the ion-binding site of...
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