9 research outputs found
FrequĂȘncia de Bacillus spp. em solos de diferentes sistemas de cultivo de arroz irrigado em Cachoeirinha, RS
The detection of a strong episignature for ChungâJansen syndrome, partially overlapping with BörjesonâForssmanâLehmann and WhiteâKernohan syndromes
Chung-Jansen syndrome is a neurodevelopmental disorder characterized by intellectual disability, behavioral problems, obesity and dysmorphic features. It is caused by pathogenic variants in the PHIP gene that encodes for the Pleckstrin homology domain-interacting protein, which is part of an epigenetic modifier protein complex. Therefore, we hypothesized that PHIP haploinsufficiency may impact genome-wide DNA methylation (DNAm). We assessed the DNAm profiles of affected individuals with pathogenic and likely pathogenic PHIP variants with Infinium Methylation EPIC arrays and report a specific and sensitive DNAm episignature biomarker for ChungâJansen syndrome. In addition, we observed similarities between the methylation profile of ChungâJansen syndrome and that of functionally related and clinically partially overlapping genetic disorders, WhiteâKernohan syndrome (caused by variants in DDB1 gene) and BörjesonâForssmanâLehmann syndrome (caused by variants in PHF6 gene). Based on these observations we also proceeded to develop a common episignature biomarker for these disorders. These newly defined episignatures can be used as part of a multiclass episignature classifier for screening of affected individuals with rare disorders and interpretation of genetic variants of unknown clinical significance, and provide further insights into the common molecular pathophysiology of the clinically-related ChungâJansen, BörjesonâForssmanâLehmann and WhiteâKernohan syndromes.</p