Genetic Mosaicism in Calmodulinopathy
نویسندگان
چکیده
منابع مشابه
Characterization of large structural genetic mosaicism in human autosomes.
Analyses of genome-wide association study (GWAS) data have revealed that detectable genetic mosaicism involving large (>2 Mb) structural autosomal alterations occurs in a fraction of individuals. We present results for a set of 24,849 genotyped individuals (total GWAS set II [TGSII]) in whom 341 large autosomal abnormalities were observed in 168 (0.68%) individuals. Merging data from the new TG...
متن کاملDetecting Genetic Mosaicism in Cultures of Human Pluripotent Stem Cells
Genetic changes in human pluripotent stem cells (hPSCs) gained during culture can confound experimental results and potentially jeopardize the outcome of clinical therapies. Particularly common changes in hPSCs are trisomies of chromosomes 1, 12, 17, and 20. Thus, hPSCs should be regularly screened for such aberrations. Although a number of methods are used to assess hPSC genotypes, there has b...
متن کاملGenetic linkage analysis in the presence of germline mosaicism.
Germline mosaicism is a genetic condition in which some germ cells of an individual contain a mutation. This condition violates the assumptions underlying classic genetic analysis and may lead to failure of such analysis. In this work we extend the statistical model used for genetic linkage analysis in order to incorporate germline mosaicism. We develop a likelihood ratio test for detecting whe...
متن کاملIsolated cardiomyopathy caused by a DMD nonsense mutation in somatic mosaicism: genetic normalization in skeletal muscle.
X-linked dilated cardiomyopathy is a pure cardiac dystrophinopathy phenotype mainly caused by DMD mutations that present a specific transcription effect in cardiac tissue. We report a 26-year-old male who presented with severe dilated cardiomyopathy and high creatine kinase. The patient did not complain of skeletal muscle weakness. A muscle biopsy showed mild dystrophic changes and a low propor...
متن کاملMosaicism in men in hemophilia: is it exceptional? Impact on genetic counselling.
Haemophilia A is an X-linked bleeding disorder caused by a wide range of mutations in the factor VIII (F8) gene . About one third [1] of cases are due to a mutation. The majority are thought to occur in a single germ cell but some, occurring during early de novo embryogenesis, produce a germline and/or somatic mosaic. In haemophilia, somatic mosaicism has been generally observed in women and se...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Circulation: Genomic and Precision Medicine
سال: 2019
ISSN: 2574-8300
DOI: 10.1161/circgen.119.002581