The gene for cherubism maps to chromosome 4p16.3

Article Abstract:

The gene for cherubism, a rare familial childhood disease that results in prominence of the lower face and a somewhat cherubic look, based on Renaissance art, has been found to map to chromosome 4p16.3. The gene is in a 3-cM interval between D4S127 (ital) and 4p-telomere with a strong candidate the gene for fibroblast growth factor receptor 3 (FGR3(ital)). A genomewide linkage search has been carried out using two families with radiologically, clinically and/or histologically confirmed cherubism. Many cases are inherited autosomal dominantly, but there are cases where no family history has been reported.

United Kingdom, United States, Scotland, Usage, Bones, Abnormalities, Genetic aspects, Chromosome mapping, Genetic disorders, Face, Facies (Medicine), Cherubism

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Examination of factors associated with instability of the FMR1 CGG repeat

Article Abstract:

Selection against sperm with full mutations appears to account for the difference between female and male transmission of the FMR1 CGG repeat associated with fragile X syndrome. Inheritance of the full mutation is equally likely for male and female offspring. The risk of full-mutation offspring is positively correlated with premutation-female repeat size, and the daughter's repeat size is also positively correlated with premutation-male repeat size.

Gene mutations, Gene mutation, Fragile X syndrome

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