...since 1998

Molecular Genetics Centre and diagnosis of rare diseases

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News and articles

The American College of Medical Genetics and Genomics (ACMG) recommends Chromosomal microarray analysis (CMA) as first-tier clinical diagnostic test for individuals wi
This paper aimed to identify genetic defects causing imprinting disorders by whole-

Smith–Lemli–Opitz syndrome anniversary

Thu, 05/06/2014 - 11:57 -- Genetaq

Fifty years ago, the Smith–Lemli–Opitz Syndrome (SLOS) was described in three male patients by pediatricians David W Smith, Luc Lemli and John Opitz at the University of Wisconsin, USA, for the first time. Typical symptoms of SLOS include 2,3 toe syndactyly and facial dysmorphisms.

Just 30 years later, Tint et al found abnormally low concentrations of cholesterol in the plasma of five patients with SLOS, but greater than 1000-fold increases in level of his immediate precursor, 7-dehydrocholesterol (7-DHC). This step is catalizad by D7-dehydrocholesterol reductase.