15
Aug
Phenotypic Variability in Phelan–McDermid Syndrome and Its Putative Link to Environmental Factors
0 Comment
Phelan-McDermid Syndrome phenotypic variability and its link to environmental factors. Phelan-McDermid Syndrome (PMS) is categorized by different genetic abnormalities in the SHANK3 gene, chromosomal rearrangements and/or deletion at 22q13. The size of deletion may vary from 100 Kb to over 9 Mb and large deletions may involve many additional genes.... Read More
04
Aug
Minimal Critical Region and Genes for a Typical Presentation of Langer-Giedion Syndrome
Though Langer-Giedion Syndrome (LGS) is described as a chromosomal disorder caused by a deletion at 8q23q24 which encompasses genes TRPS1, EXT1, and RAD21, there remains to be a strong genotype-phenotype correlation because molecular genetic testing of LGS patients is not often reported in literature. The authors report two unrelated patients... Read More
30
Jul
9p13.2 deletion, the PAX5 gene and the brain
9p13.2 and the PAX5 gene. Mutation or deletion of this gene causes a novel neurodevelopmental disorder. The clinical consequences of deletions of the distal part of 9p are well known. At the same time the significance of interstitial deletions of other areas of 9p are not so clear. The segment... Read More
30
Jul
8q12.3 deletion, the YTHDF3 gene and normal brain development
The YTHDF3 gene is located at chromosome 8q12.3 deletion. The data demonstrates that this gene is necessary for normal brain development. In animal models the YTHDF3 gene is necessary for normal development of the brain. However this gene has not been shown to cause any Mendelian disease. In humans, the... Read More
29
Jul
Phelan-McDermid syndrome and new treatment medications
Phelan-McDermid syndrome new treatments may improve some patients’ symptoms – more research necessary. Phelan-McDermid syndrome (PMS) is a disorder caused by deletions of the distal segment of 22q (22q13.3). The main factor in this condition is haploinsufficiency of the SHANK3 gene located at this segment. Mutations of this gene produce... Read More
