Coffin-Lowry syndrome (CLS, MIM#303600) is an X-linked semidominant disorder. In males disorder is characterized by severe mental retardation with distinctive phenotype of face and hands, and with abnormalities in osteoarticular system. In females the intensity of symptoms is variable. Coffin- Lowry syndrome is caused in the majority of cases by mutations in the RSK2 gene (RPS6KA3) located in Xp22.2 region. The RSK2 gene encodes for RSK2 protein that belongs to a family of serine-threonine kinases acting in the MAPK/ERK signalling pathway.


Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder affecting almost exclusively girls. Mutations in the MECP2 gene have been found in a variety of different RTT phenoty- pes. The MECP2 gene encodes a transcriptional repressor (MeCP2, methyl-CpG-binding protein 2) acting by binding to the methylated DNA and producing the compacted chromatin structure. MeCP2 is strongly expressed in brain. Up to now, 370 different MECP2 mutations have been reported. Most mutations occur de novo on the paternal chromosome. In several cases a genotype-phenotype correlation have been found.

Molecular basis of Alagillea Syndrome

Alagille syndrome snake (AGS), a disease inherited in an autosomal dominant, occurs with a frequency of 1: 70 000 live births. For Alagille syndrome snake is responsible JAG1 gene encoding a ligand for the Notch receptor involved in a highly conserved mechanism of signal transduction between cells. To date 193 different mutations have been identified (deletions, insertions, transitions and transversions) JAG1 gene. For the pathogenesis of AGS probably responsible is a partial loss of function of the gene and / or a dominant negative effect of the defective protein JAG1.

Team Smith Lemli Opitz syndrome and in clinical, biochemical and molecular

Team Smith Lemli Opitz and ( SLOS , MIM 27400 ) is an autosomal recessive disorder . It is characterized by mental retardation , altered facial appearance and numerous irregularities in the construction of many organs . The cause of many defects is a deficit activity of 7- dehydrocholesterol reductase ( DHCR7 ) , the enzyme that catalyzes the last step in the biosynthesis of cholesterol. Recently it was discovered that cholesterol plays a key role in embryonic development of the organism by regulating the activities of signal proteins ( sonic hedgehog , SHH ) .

The Editorial Board
Andrzej Łukaszyk - przewodniczący, Zofia Bielańska-Osuchowska, Szczepan Biliński, Mieczysław Chorąży, Aleksander Koj, Włodzimierz Korochoda, Leszek Kuźnicki, Aleksandra Stojałowska, Lech Wojtczak

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