Publication details
Which mutations are necessary to be analysed for the fetal screening of Smith-Lemli-Opitz syndrome?
| Authors | |
|---|---|
| Year of publication | 2007 |
| Type | Article in Proceedings |
| Conference | Sborník abstrakt 22. pracovní dny Dědičné metabolické poruchy |
| MU Faculty or unit | |
| Citation | |
| Field | Genetics and molecular biology |
| Keywords | SLOS; Smith-Lemli-Opitz syndrome; fetal screening |
| Description | Smith-Lemli-Opitz syndrome (SLOS) is a metabolic disorder with an autosomal recessive inheritance. The specific biochemical defect consists in reduced or absent of DHCR activity. It results in accumulation of 7- dehydrocholesterol and 8-dehydrocholesterol and usually in cholesterol deficiency.Eight of the most common mutations of the DHCR7 gene (p.W151X, IVS8-1G>C, p.L157P, p.V326L, p.L109P, p.R446Q, p.R352Q and p.C380Y) were examined in the group of 456 fetuses with high risk for SLOS after second-trimester biochemical screening. The most frequently found mutations IVS8-1G>C (c.964-1G>C) and p.W151X are also the most severe ones. At least one of these mutations was detected in every fetus with SLOS. It suggests that fetal screening might preferentially identify more severely affected cases. On that account, we will continue with the fetal screening of SLOS by examination these two severe mutations and mutation p.V326L, which is indeed mild but it is the second most common mutation in our population. In this way the method will become more cost-effective, whereas the reliability will stay almost the same. |
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