Does Oxidative Stress Play a Role in the Pathogenesis of Urticarias

Radical oxygen species (ROS) modulate various cellular processes and are involved in physiologic and pathologic conditions, including inflammation. There is growing evidence that supports the existence of an abnormal redox status in some chronic inflammatory skin diseases, including contact dermatitis, atopic dermatitis and psoriasis. This review introduces some general aspects on the role of oxidative stress in cutaneous inflammation, with special emphasis on urticarias, summarizing recent novel findings derived from the study of physical urticarias and chronic idiopathic urticaria

Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

ABSTRACT: BACKGROUND: Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare, multiple congenital anomalies/mental retardation syndrome characterized by a peculiar face, short stature, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies, and immunological defects. Recently mutations in the histone methyl transferase MLL2 gene have been identified as its underlying cause. METHODS: Genomic DNAs were extracted from 62 index patients clinically diagnosed as affected by Kabuki syndrome. Sanger sequencing was performed to analyze the whole coding region of the MLL2 gene including intron-exon junctions. The putative causal and possible functional effect of each nucleotide variant identified was estimated by in silico prediction tools. RESULTS: We identified 45 patients with MLL2 nucleotide variants. 38 out of the 42 variants were never described before. Consistently with previous reports, the majority are nonsense or frameshift mutations predicted to generate a truncated polypeptide. We also identified 3 indel, 7 missense and 3 splice site. CONCLUSIONS: This study emphasizes the relevance of mutational screening of the MLL2 gene among patients diagnosed with Kabuki syndrome. The identification of a large spectrum of MLL2 mutations possibly offers the opportunity to improve the actual knowledge on the clinical basis of this multiple congenital anomalies/mental retardation syndrome, design functional studies to understand the molecular mechanisms underlying this disease, establish genotype-phenotype correlations and improve clinical management

Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients

Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare, multiple congenital anomalies/mental retardation syndrom characterizes by a peculiar face, short stature, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies and immunological defects. recently mutations in the histone methy transferase MLL2 gene have been identified as its underlying cause. Genomic DNAs were extracted from 62 index patients clinically diagnosed as affected by Kabuki syndrome. Sanger sequencing was performed to analyze the whole coding region of the MLL2 gene including intro-exon juctions. The putative causal and possible functional effect of each nucleotide variant identified estimated by in silico prediction tools. We identified 45 patients with MLL2 nucleotide variants. 38 out of the 42 variants were never described before. Consistently with previous reports, the majority are nonsense or frameshift mutations predicted to generate a truncated polypeptide. We also identified 3 indel, 7 missense and 3 splice site. This study emphasizes the relevance of mutational screening of the MLL2 gene among patients diagnosed with Kabuki syndrome. The identification od a large spectrum of MLL2 mutations possibly offers the opportunity to improve the actual knowledge on the clinical basis of this multiple congenital anomalies/mental retardation syndrome, design functional studies to understand the molecula mechanism underlying this disease, establish genotype-phenotype correlations and improve clinical management