C Laing

Middlesex University, UK, Londinium, England, United Kingdom

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Publications (1)6.39 Total impact

  • Source
    M H Rajpar · K Harley · C Laing · R M Davies · M J Dixon
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    ABSTRACT: Amelogenesis imperfecta (AI) is a group of inherited defects of dental enamel formation that shows both clinical and genetic heterogeneity. To date, mutations in the gene encoding amelogenin have been shown to underlie a subset of the X-linked recessive forms of AI. Although none of the genes underlying autosomal-dominant or autosomal-recessive AI have been identified, a locus for a local hypoplastic form has been mapped to human chromosome 4q11-q21. In the current investigation, we have analysed a family with an autosomal-dominant, smooth hypoplastic form of AI. Our results have shown that a splicing mutation in the splice donor site of intron 7 of the gene encoding the enamel-specific protein enamelin underlies the phenotype observed in this family. This is the first autosomal-dominant form of AI for which the genetic mutation has been identified. As this type of AI is clinically distinct from that localized previously to chromosome 4q11-q21, these findings highlight the need for a molecular classification of this group of disorders.
    Preview · Article · Sep 2001 · Human Molecular Genetics

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133 Citations
6.39 Total Impact Points

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  • 2001
    • Middlesex University, UK
      Londinium, England, United Kingdom