Relation between biomarkers and clinical severity in patients with Smith–Lemli–Opitz syndrome

@article{Olh2012RelationBB,
  title={Relation between biomarkers and clinical severity in patients with Smith–Lemli–Opitz syndrome},
  author={Anna V. Ol{\'a}h and Gabriella P. Szab{\'o} and J{\'o}zsef Varga and L{\'i}dia Balogh and Gy{\"o}rgyi Cs{\'a}b{\'i} and Violetta Cs{\'a}kv{\'a}ry and Wolfgang Erwa and Istv{\'a}n Balogh},
  journal={European Journal of Pediatrics},
  year={2012},
  volume={172},
  pages={623-630}
}
Smith–Lemli–Opitz syndrome (SLOS), a multiple congenital anomaly with severe mental retardation, is caused by decreased activity of 7-dehydrocholesterol reductase. Fifteen Hungarian patients were diagnosed with SLOS on the basis of clinical symptoms, serum cholesterol, 7-dehydrocholesterol, and molecular genetic testing. Their age at the time of diagnosis in mild SLOS (n = 4, clinical score <20) was 0.5–18 years, cholesterol was 2.37 ± 0.8 mmol/L, and 7DHC was 0.38 ± 0.14 mmol/L. In the group… 
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
The results suggest that DHCR7 carriers have increased vulnerability to both ARI and TRZ exposure compared with CTRs, and the 1–3% of the population may be more likely to sustain deleterious health consequences on exposure to compounds that increase levels of 7-DHC, especially during brain development.
Determination of the allelic frequency in Smith–Lemli–Opitz syndrome by analysis of massively parallel sequencing data sets
TLDR
The ability to determine pathogenic allele frequencies by evaluation of the full coding sequences and not merely a single nucleotide polymorphism (SNP) or series of SNPs will lead to more accurate estimations of incidence.
Human Cholesterol Biosynthesis Defects
TLDR
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Medication effects on developmental sterol biosynthesis
TLDR
Studies of human dermal fibroblasts from individuals who carry DCHR7 +/- single allele mutations suggest that the same gene*medication interaction also occurs in humans, and public health relevance is high, as DHCR7-inhibitors can be considered teratogens, and are commonly used by pregnant women.
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TLDR
Although the mutational spectrum of the disease is wide, approximately 10 mutations are responsible for more than 80% of the cases and these mutations show a large interethnic variability.
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TLDR
A comparison of the frequency of anomalies in biochemically identified patients with similar data from previously reported clinical series suggests that up to 25% of reports of RSH/SLO in the literature may describe genetic conditions other than RSH-SLO with 7-DHC-emia.
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
The observation that five unrelated cases of SLOS were diagnosed in Ontario during a 12-month period has implications for prenatal and newborn screening for this potentially treatable inherited disorder.
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