Mutation update for the SATB2 gene

SATB2-associated syndrome (SAS) is an autosomal dominant neurodevelopmental disorder caused by alterations in the SATB2 gene. Here we present a review of published pathogenic variants in the SATB2 gene to date and report 38 novel alterations found in 57 additional previously unreported individuals. Overall, we present a compilation of 120 unique variants identified in 155 unrelated families ranging from single nucleotide coding variants to genomic rearrangements distributed throughout the entire coding region of SATB2. Single nucleotide variants predicted to result in the occurrence of a premature stop codon were the most commonly seen (51/120=42.5%) followed by missense variants (31/120=25.8%). We review the rather limited functional characterization of pathogenic variants and discuss current understanding of the consequences of the different molecular alterations. We present an expansive phenotypic review along with novel genotype-phenotype correlations. Lastly, we discuss current knowledge on animal models and present future prospects. This review should help provide better guidance for the care of individuals diagnosed with SAS

Geleophysic dysplasia: Report on two sibs

The authors describe two additional cases of Geleophysic dysplasia in siblings, which is a rare autosomal recessive disorder of glycoprotein metabolism whose basic defects remain to be determined.<br>Os autores descrevem dois novos casos de displasia Geleofísica em irmãos, uma doença autossômica recessiva rara do metabolismo de glicoproteínas cujo defeito básico ainda não foi determinado

The atomic structure of the Si(111) (2 root 3x2 root 3)R30 degrees-Sn reconstruction

We have studied the atomic structure of the View the MathML source reconstruction induced by adsorption of about 1.1 monolayers of Sn on Si(111) using surface X-ray diffraction (SXRD) and scanning tunnelling microscopy (STM). The experimentally obtained structure factors in SXRD are in contradiction with existing models in the literature and we conclude the need for a new surface atomic structure model. We have been able to determine a number of properties of an appropriate surface model to allow a better fit to the experimental structure factors