The FRAXE Syndrome: is it time for routine screening?
Year: 1996
Type: article
Abstract: The accompanying article by Knight et al. (1996) presents important new information on the apparently low prevalence of the FRAXE syndrome. Their overall conclusion-that the syndrome was relatively rare among the developmentally delayed population studied-is consistent with results from several other smaller studies. Knight et al. found 1 case of a FRAXE mutation in 896 males tested. This yields a prevalence of 0.11% for this developmentally delayed population, whose prior cytogenetic fragility status was either unknown (60%) or negative (40%). Among an additional 15 samples (8 female and 7 male) that were known to be cytogenetically positive but negative by DNA for fragile X (FRAXA), one additional FRAXE family was also identified. A previous report in the Journal (AllinghamHawkins and Ray 1995) found 0/300 FRAXE mutations among a similarly referred developmentally delayed male population. Holden et al. (in press) screened 298 institutionalized severely affected males and also 115 noninstitutionalized mildly affected males (J. J. A. Holden, personal communication), finding none positive for FRAXE. A similar screening of 150 males, by Murgia, identified one FRAXE case (Tranebjaerg et al., in press). Another screening, by Wang et al. (1993), of 425 males identified 1 FRAXE and 12 FRAXA mutations. Combining these figures gives a FRAXE prevalence of 3/2,184 (0.14%) among males referred for screening because of developmental disability and suspicion of fragile X. With the exception of the report by Wang et al. (1993), the FRAXA prevalence in the populations studied has not been noted. To help determine accurately the expected ratio of the two mutations, future screening studies should report both when they are done on the same populations. We have found the prevalence of fragile X among similarly referred populations by DNA testing to be -4% (33/806), but we have not
Source: PubMed Central
Author: W T Brown
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W35614978