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Characterisation of molecular defects in X‐linked amelogenesis imperfecta (AIH1)
Author(s) -
Lench Nicholas J.,
Winter Gerald B.
Publication year - 1995
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1380050310
Subject(s) - amelogenesis imperfecta , amelogenin , biology , genetics , ameloblast , exon , gene , x chromosome , allele , phenotype , amelogenesis , mutation , allelic heterogeneity , enamel paint , microbiology and biotechnology , medicine , dentistry
Amelogenins are an heterogenous family of proteins produced by ameloblasts of the enamel organ during tooth development. Disturbances of enamel formation occur in amelogenesis imperfecta, a clinically heterogenous group of inherited disorders characterised by defective enamel biomineralisa‐tion. An amelogenin gene, AMGX, has been mapped to the short of the X chromosome (Xp22.1—p22.3) and has been implicated in the molecular pathology of X‐linked amelogenesis imperfecta (AIH1). We have identified three families exhibiting AIH1 and screened the AMGX gene for mutations using single‐strand conformational polymorphism analysis and DNA sequencing. Three novel mutations were identified: a C‐T substitution in exon 5, and a G‐T substitution and single cytosine deletion in exon 6, confirming the existence of extensive allelic heterogeneity in this condition. The identification of family‐specific mutations will enable early identification of affected individuals and correlation of clinical phenotype with genotype will facilitate an objective system of disease classification. © 1995 Wiley‐Liss, Inc.