[Sotos syndrome diagnosed by comparative genomic hybridisation].
Cali, Colombia. In Rev Chil Pediatr, Jan 2016
UNASSIGNED: Sotos Syndrome (SS) is a genetic disease with an autosomal dominant pattern caused by haplo-insufficiency of NSD1 gene secondary to point mutations or microdeletion of the 5q35 locus where the gene is located.
Acute Myeloid Leukemia With Myelodysplasia-Related Changes.
Rochester, United States. In Am J Clin Pathol, Jul 2015
RESULTS: Session 3 of the workshop cases displayed heterogeneity as expected within AML-MRC, yet several cases suggested that recently recognized entities may exist within this category, such as familial MDS/AML predisposition syndromes and rare cases of high-risk AML associated with the cryptic t(5;11)(q35;p15);NUP98-NSD1 that may masquerade as a del(5q).
Sotos syndrome 1 and 2.
In Pediatr Endocrinol Rev, 2014
It is a genetic disorder due to haploinsufficiency of the NSD1 gene (Nuclear receptor-binding SET Domain protein 1) on chromosome 5q35.2-35.3 in 90% of the patients: Sotos syndrome 1.
Genetic syndromes associated with overgrowth in childhood.
Seoul, South Korea. In Ann Pediatr Endocrinol Metab, 2013
However, it is now understood that Sotos syndrome is caused by a variety of molecular genetic alterations resulting in haploinsufficiency of the NSD1 gene at chromosome 5q35 and that Beckwith-Wiedemann syndrome is caused by heterogeneous abnormalities in the imprinting of a number of growth regulatory genes within chromosome 11p15 in the majority of cases.
Understanding the language of Lys36 methylation at histone H3.
Houston, United States. In Nat Rev Mol Cell Biol, 2012
Several enzymes from yeast and humans, including the methyltransferases SET domain-containing 2 (Set2) and nuclear receptor SET domain-containing 1 (NSD1), respectively, alter the methylation status of H3K36, and significant progress has been made in understanding how they affect chromatin structure and function.