Mutational profiling in the peripheral blood leukocytes of patients with systemic mast cell activation syndrome using next-generation sequencing
| Autor: | Markus M. Nöthen, Britta Haenisch, Janine Altmüller, Heide Fier, Amit Kawalia, Gerhard J. Molderings, Markus Menzen |
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| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Male Candidate gene Somatic cell DNA Mutational Analysis 0302 clinical medicine Gene Frequency Leukocytes Systemic mastocytosis Mutation frequency Genetics Aged 80 and over methods [Genomics] High-Throughput Nucleotide Sequencing Genomics Syndrome Middle Aged Pedigree Phenotype 030220 oncology & carcinogenesis Female medicine.symptom Mastocytosis Adult diagnosis [Mastocytosis] Adolescent genetics [Mastocytosis] Immunology Mast cell activation syndrome Biology Polymorphism Single Nucleotide metabolism [Leukocytes] 03 medical and health sciences Young Adult Germline mutation ddc:570 medicine Humans Allele Alleles Germ-Line Mutation Aged medicine.disease Human genetics 030104 developmental biology Amino Acid Substitution Mutation Biomarkers Genome-Wide Association Study |
| Zdroj: | Immunogenetics 69(6), 359-369 (2017). doi:10.1007/s00251-017-0981-y |
| ISSN: | 1432-1211 |
| DOI: | 10.1007/s00251-017-0981-y |
| Popis: | Mast cell activation syndrome (MCAS) and systemic mastocytosis (SM) are two clinical systemic mast cell activation disease variants. Few studies to date have investigated the genetic basis of MCAS. The present study had two aims. First, to investigate whether peripheral blood leukocytes from MCAS patients also harbor somatic mutations in genes implicated in SM using next-generation sequencing (NGS) technology and a relatively large MCAS cohort. We also addressed the question, whether some of the previously as somatic reported mutations are indeed germline mutations. Second, to identify germline mutations of relevance to MCAS pathogenesis. Here, mutation frequency in the present MCAS cohort was compared to that in public- and in-house databases in the case of frequent variants, and co-segregation was investigated in multiply affected families in the case of rare variants (allele frequency |
| Databáze: | OpenAIRE |
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