Abstract
Several valuable sets of data came out of the Second International Scientific Symposium on Smith-Lemli-Opitz/RSH Syndrome held in Salt Lake City in July 1999. One part of this is our study of comorbidity factors in heterozygotes from 23 collected pedigrees (over 450 individuals described). We first asked whether the relatively high frequency of SLO/RSH (1/10,000 births) in the population might be due in part to a fitness advantage in the heterozygotes. Our initial hypothesis was based on the idea that heterozygotes produce less cholesterol, thus protecting them from lipotropic disease. Surprisingly, our data indicated an increased incidence of high cholesterol and late-onset diabetes in close relatives of patients. Therefore, there appeared to be no protective effect offered by the altered cholesterol metabolic pathway in SLO/RSH heterozygotes, but instead a trend toward increases in lipid-related disease. We also found that presumed SLO/RSH heterozygotes exhibit previously unrecognized trends such as a positive correlation with infertility and a negative correlation with alcoholism. These data provide new insight for our understanding of the potential role of 7-DHC mutation carrier status, and for future interpretation of similar findings in families suspected for SLO/RSH.
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Ross, A., Metherall, J. & Opitz, J. A close relationship to Smith-Lemli-Opitz (RSH) patients positively correlates with an increased incidence of high cholesterol, late-onset diabetes, and infertility; and negatively correlates with alcoholism. Genet Med 2, 84 (2000). https://doi.org/10.1097/00125817-200001000-00119
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DOI: https://doi.org/10.1097/00125817-200001000-00119